|
ATM
|
A2062V
|
missense |
loss of function |
ATM A2062V lies within the FAT domain of the Atm protein (UniProt.org). A2062V retains Atm expression but fails to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524) and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
A2067V
|
missense |
loss of function - predicted |
ATM A2067V lies within the FAT domain of the Atm protein (UniProt.org). A2067V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2308V
|
missense |
loss of function - predicted |
ATM A2308V lies within the FAT domain of the Atm protein (UniProt.org). A2308V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2346T
|
missense |
loss of function - predicted |
ATM A2346T lies within the FAT domain of the Atm protein (UniProt.org). A2346T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2524P
|
missense |
loss of function - predicted |
ATM A2524P lies within the FAT domain of the Atm protein (UniProt.org). A2524P results in Atm expression similar to wild-type but decreased DNA damage-induced kinase activity in patient samples (PMID: 17166884), fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2602E
|
missense |
loss of function - predicted |
ATM A2602E does not lie within any known functional domains of the Atm protein (UniProt.org). A2602E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2626T
|
missense |
loss of function - predicted |
ATM A2626T does not lie within any known functional domains of the Atm protein (UniProt.org). A2626T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2626V
|
missense |
loss of function - predicted |
ATM A2626V does not lie within any known functional domains of the Atm protein (UniProt.org). A2626V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2635D
|
missense |
loss of function - predicted |
ATM A2635D does not lie within any known functional domains of the Atm protein (UniProt.org). A2635D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2787V
|
missense |
loss of function - predicted |
ATM A2787V lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). A2787V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2843D
|
missense |
loss of function - predicted |
ATM A2843D lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). A2843D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2893P
|
missense |
loss of function - predicted |
ATM A2893P lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). A2893P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A2893V
|
missense |
loss of function - predicted |
ATM A2893V lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). A2893V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
A416E
|
missense |
loss of function - predicted |
ATM A416E does not lie within any known functional domains of the Atm protein (UniProt.org). A416E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C1674R
|
missense |
loss of function - predicted |
ATM C1674R does not lie within any known functional domains of the Atm protein (UniProt.org). C1674R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C1674Y
|
missense |
loss of function - predicted |
ATM C1674Y does not lie within any known functional domains of the Atm protein (UniProt.org). C1674Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C2021Y
|
missense |
loss of function - predicted |
ATM C2021Y lies within the FAT domain of the Atm protein (UniProt.org). C2021Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C2337R
|
missense |
loss of function - predicted |
ATM C2337R lies within the FAT domain of the Atm protein (UniProt.org). C2337R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C2349F
|
missense |
loss of function - predicted |
ATM C2349F lies within the FAT domain of the Atm protein (UniProt.org). C2349F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C2488Y
|
missense |
loss of function |
ATM C2488Y lies within the FAT domain of the Atm protein (UniProt.org). C2488Y retains Atm protein expression but fails to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524) and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
C2735F
|
missense |
loss of function - predicted |
ATM C2735F lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). C2735F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C2770G
|
missense |
loss of function - predicted |
ATM C2770G lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). C2770G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C2931W
|
missense |
loss of function - predicted |
ATM C2931W lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). C2931W fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C2931Y
|
missense |
loss of function - predicted |
ATM C2931Y lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). C2931Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C353R
|
missense |
loss of function - predicted |
ATM C353R does not lie within any known functional domains of the Atm protein (UniProt.org). C353R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C458Y
|
missense |
loss of function - predicted |
ATM C458Y does not lie within any known functional domains of the Atm protein (UniProt.org). C458Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
C907*
|
nonsense |
loss of function - predicted |
ATM C907* results in a premature truncation of the Atm protein at amino acid 907 of 3056 (UniProt.org). C907* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D1053N
|
missense |
loss of function - predicted |
ATM D1053N does not lie within any known functional domains of the Atm protein (UniProt.org). D1053N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D1637N
|
missense |
loss of function - predicted |
ATM D1637N does not lie within any known functional domains of the Atm protein (UniProt.org). D1637N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D1637Y
|
missense |
loss of function - predicted |
ATM D1637Y does not lie within any known functional domains of the Atm protein (UniProt.org). D1637Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D1682H
|
missense |
loss of function |
ATM D1682H does not lie within any known functional domains of the Atm protein (UniProt.org). D1682H retains Atm protein expression but confers a loss of function to Atm as demonstrated by failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524) and failure to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
D1682Y
|
missense |
loss of function - predicted |
ATM D1682Y does not lie within any known functional domains of the Atm protein (UniProt.org). D1682Y demonstrates decreased kinase activity in combination with ATM I1681V in patient cells (PMID: 16014569) and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2016H
|
missense |
loss of function - predicted |
ATM D2016H lies within the FAT domain of the Atm protein (UniProt.org). D2016H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2016N
|
missense |
loss of function - predicted |
ATM D2016N lies within the FAT domain of the Atm protein (UniProt.org). D2016N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2085H
|
missense |
loss of function - predicted |
ATM D2085H lies within the FAT domain of the Atm protein (UniProt.org). D2085H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2448A
|
missense |
loss of function - predicted |
ATM D2448A lies within the FAT domain of the Atm protein (UniProt.org). D2448A fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2448G
|
missense |
loss of function - predicted |
ATM D2448G lies within the FAT domain of the Atm protein (UniProt.org). D2448G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2448H
|
missense |
loss of function - predicted |
ATM D2448H lies within the FAT domain of the Atm protein (UniProt.org). D2448H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2448N
|
missense |
loss of function - predicted |
ATM D2448N lies within the FAT domain of the Atm protein (UniProt.org). D2448N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2708N
|
missense |
loss of function |
ATM D2708N does not lie within any known functional domains of the Atm protein (UniProt.org). D2708N results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188) and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
D2720H
|
missense |
loss of function - predicted |
ATM D2720H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2720Y
|
missense |
loss of function - predicted |
ATM D2720Y lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). D2720Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2870N
|
missense |
loss of function - predicted |
ATM D2870N lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). D2870N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2870Y
|
missense |
loss of function - predicted |
ATM D2870Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2870Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2913H
|
missense |
loss of function - predicted |
ATM D2913H lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). D2913H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
D2913Y
|
missense |
loss of function |
ATM D2913Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2913Y confers a loss of function to Atm as demonstrated by failure to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951) and decreased phosphorylation of Kap1 in culture (PMID: 40105422). |
|
|
ATM
|
D2959N
|
missense |
loss of function - predicted |
ATM D2959N lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). D2959N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E1072*
|
nonsense |
loss of function - predicted |
ATM E1072* results in a premature truncation of the Atm protein at amino acid 1072 of 3056 (UniProt.org). E1072* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E1342*
|
nonsense |
loss of function - predicted |
ATM E1342* results in a premature truncation of the Atm protein at amino acid 1342 of 3056 (UniProt.org). E1342* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E1346*
|
nonsense |
loss of function - predicted |
ATM E1346* results in a premature truncation of the Atm protein at amino acid 1346 of 3056 (UniProt.org). E1346* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E1666*
|
nonsense |
loss of function - predicted |
ATM E1666* results in a premature truncation of the Atm protein at amino acid 1666 of 3056 (UniProt.org). E1666* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E1707*
|
nonsense |
loss of function - predicted |
ATM E1707* results in a premature truncation of the Atm protein at amino acid 1707 of 3056 (UniProt.org). E1707* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E1724K
|
missense |
loss of function - predicted |
ATM E1724K does not lie within any known functional domains of the Atm protein (UniProt.org). E1724K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E1892*
|
nonsense |
loss of function - predicted |
ATM E1892* results in a premature truncation of the Atm protein at amino acid 1892 of 3056 (UniProt.org). E1892* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E1978*
|
nonsense |
loss of function - predicted |
ATM E1978* results in a premature truncation of the Atm protein at amino acid 1978 of 3056 (UniProt.org). E1978* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E1979*
|
nonsense |
loss of function - predicted |
ATM E1979* results in a premature truncation of the Atm protein at amino acid 1979 of 3056 (UniProt.org). E1979* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2014G
|
missense |
loss of function - predicted |
ATM E2014G lies within the FAT domain of the Atm protein (UniProt.org). E2014G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2014K
|
missense |
loss of function - predicted |
ATM E2014K lies within the FAT domain of the Atm protein (UniProt.org). E2014K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2039G
|
missense |
loss of function - predicted |
ATM E2039G lies within the FAT domain of the Atm protein (UniProt.org). E2039G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2052K
|
missense |
loss of function - predicted |
ATM E2052K lies within the FAT domain of the Atm protein (UniProt.org). E2052K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2096*
|
nonsense |
loss of function - predicted |
ATM E2096* results in a premature truncation of the Atm protein at amino acid 2096 of 3056 (UniProt.org). E2096* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2126*
|
nonsense |
loss of function - predicted |
ATM E2126* results in a premature truncation of the Atm protein at amino acid 2126 of 3056 (UniProt.org). E2126* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2164D
|
missense |
loss of function - predicted |
ATM E2164D lies within the FAT domain of the Atm protein (UniProt.org). E2164D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2164G
|
missense |
loss of function - predicted |
ATM E2164G lies within the FAT domain of the Atm protein (UniProt.org). E2164G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2164K
|
missense |
loss of function - predicted |
ATM E2164K lies within the FAT domain of the Atm protein (UniProt.org). E2164K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2164Q
|
missense |
loss of function - predicted |
ATM E2164Q lies within the FAT domain of the Atm protein (UniProt.org). E2164Q fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2181K
|
missense |
loss of function - predicted |
ATM E2181K lies within the FAT domain of the Atm protein (UniProt.org). E2181K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2245*
|
nonsense |
loss of function - predicted |
ATM E2245* results in a premature truncation of the Atm protein at amino acid 2245 of 3056 (UniProt.org). E2245* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2294Q
|
missense |
loss of function - predicted |
ATM E2294Q lies within the FAT domain of the Atm protein (UniProt.org). E2294Q fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2295*
|
nonsense |
loss of function - predicted |
ATM E2295* results in a premature truncation of the Atm protein at amino acid 2295 of 3056 (UniProt.org). E2295* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2444D
|
missense |
loss of function - predicted |
ATM E2444D lies within the FAT domain of the Atm protein (UniProt.org). E2444D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2444K
|
missense |
loss of function - predicted |
ATM E2444K lies within the FAT domain of the Atm protein (UniProt.org). E2444K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2539*
|
nonsense |
loss of function - predicted |
ATM E2539* results in a premature truncation of the Atm protein at amino acid 2539 of 3056 (UniProt.org). E2539* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2621*
|
nonsense |
loss of function - predicted |
ATM E2621* results in a premature truncation of the Atm protein at amino acid 2621 of 3056 (UniProt.org). E2621* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2676*
|
nonsense |
loss of function - predicted |
ATM E2676* results in a premature truncation of the Atm protein at amino acid 2676 of 3056 (UniProt.org). E2676* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2744*
|
nonsense |
loss of function - predicted |
ATM E2744* results in a premature truncation of the Atm protein at amino acid 2744 of 3056 (UniProt.org). E2744* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2768*
|
nonsense |
loss of function - predicted |
ATM E2768* results in a premature truncation of the Atm protein at amino acid 2768 of 3056 (UniProt.org). E2768* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2837K
|
missense |
loss of function - predicted |
ATM E2837K lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). E2837K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2895A
|
missense |
loss of function - predicted |
ATM E2895A lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). E2895A fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2904Q
|
missense |
loss of function - predicted |
ATM E2904Q lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). E2904Q fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2932K
|
missense |
loss of function - predicted |
ATM E2932K lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). E2932K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E2977*
|
nonsense |
loss of function - predicted |
ATM E2977* results in a premature truncation of the Atm protein at amino acid 2977 of 3056 (UniProt.org). E2977* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E3015*
|
nonsense |
loss of function - predicted |
ATM E3015* results in a premature truncation of the Atm protein at amino acid 3015 of 3056 (UniProt.org). E3015* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E3022*
|
nonsense |
loss of function - predicted |
ATM E3022* results in a premature truncation of the Atm protein at amino acid 3022 of 3056 (UniProt.org). E3022* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E522*
|
nonsense |
loss of function - predicted |
ATM E522* results in a premature truncation of the Atm protein at amino acid 522 of 3056 (UniProt.org). E522* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E71*
|
nonsense |
loss of function - predicted |
ATM E71* results in a premature truncation of the Atm protein at amino acid 71 of 3056 (UniProt.org). E71* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E73*
|
nonsense |
loss of function - predicted |
ATM E73* results in a premature truncation of the Atm protein at amino acid 73 of 3056 (UniProt.org). E73* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E739*
|
nonsense |
loss of function - predicted |
ATM E739* results in a premature truncation of the Atm protein at amino acid 739 of 3056 (UniProt.org). E739* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E836*
|
nonsense |
loss of function - predicted |
ATM E836* results in a premature truncation of the Atm protein at amino acid 836 of 3056 (UniProt.org). E836* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E958*
|
nonsense |
loss of function - predicted |
ATM E958* results in a premature truncation of the Atm protein at amino acid 958 of 3056 (UniProt.org). E958* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
E968*
|
nonsense |
loss of function - predicted |
ATM E968* results in a premature truncation of the Atm protein at amino acid 968 of 3056 (UniProt.org). E968* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
F1025L
|
missense |
loss of function |
ATM F1025L does not lie within any known functional domains of the Atm protein (UniProt.org). F1025L retains Atm protein expression but confers a loss of function to Atm as demonstrated by failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524) and failure to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
F1767V
|
missense |
loss of function - predicted |
ATM F1767V does not lie within any known functional domains of the Atm protein (UniProt.org). F1767V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
F2393I
|
missense |
loss of function - predicted |
ATM F2393I lies within the FAT domain of the Atm protein (UniProt.org). F2393I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
F2393S
|
missense |
loss of function - predicted |
ATM F2393S lies within the FAT domain of the Atm protein (UniProt.org). F2393S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
F2686C
|
missense |
loss of function - predicted |
ATM F2686C lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). F2686C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
F2732L
|
missense |
loss of function - predicted |
ATM F2732L lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). F2732L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
F2779C
|
missense |
loss of function - predicted |
ATM F2779C lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). F2779C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
F2827C
|
missense |
loss of function |
ATM F2827C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2827C results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and failure to form foci in response to irradiation in culture (PMID: 19431188), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
F2839L
|
missense |
loss of function - predicted |
ATM F2839L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2839L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G1202*
|
nonsense |
loss of function - predicted |
ATM G1202* results in a premature truncation of the Atm protein at amino acid 1202 of 3056 (UniProt.org). G1202* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G1522R
|
missense |
loss of function - predicted |
ATM G1522R does not lie within any known functional domains of the Atm protein (UniProt.org). G1522R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G1672V
|
missense |
loss of function - predicted |
ATM G1672V does not lie within any known functional domains of the Atm protein (UniProt.org). G1672V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G1746E
|
missense |
loss of function - predicted |
ATM G1746E does not lie within any known functional domains of the Atm protein (UniProt.org). G1746E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G1746R
|
missense |
loss of function - predicted |
ATM G1746R does not lie within any known functional domains of the Atm protein (UniProt.org). G1746R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G197E
|
missense |
loss of function - predicted |
ATM G197E does not lie within any known functional domains of the Atm protein (UniProt.org). G197E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2020C
|
missense |
loss of function - predicted |
ATM G2020C lies within the FAT domain of the Atm protein (UniProt.org). G2020C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2020D
|
missense |
loss of function - predicted |
ATM G2020D lies within the FAT domain of the Atm protein (UniProt.org). G2020D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2024W
|
missense |
loss of function - predicted |
ATM G2024W lies within the FAT domain of the Atm protein (UniProt.org). G2024W fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2063V
|
missense |
loss of function - predicted |
ATM G2063V lies within the FAT domain of the Atm protein (UniProt.org). G2063V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2072E
|
missense |
loss of function - predicted |
ATM G2072E lies within the FAT domain of the Atm protein (UniProt.org). G2072E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2072R
|
missense |
loss of function - predicted |
ATM G2072R lies within the FAT domain of the Atm protein (UniProt.org). G2072R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2083*
|
nonsense |
loss of function - predicted |
ATM G2083* results in a premature truncation of the Atm protein at amino acid 2083 of 3056 (UniProt.org). G2083* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2477*
|
nonsense |
loss of function - predicted |
ATM G2477* results in a premature truncation of the Atm protein at amino acid 2477 of 3056 (UniProt.org). G2477* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2536*
|
nonsense |
loss of function - predicted |
ATM G2536* results in a premature truncation of the Atm protein at amino acid 2536 of 3056 (UniProt.org). G2536* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2694E
|
missense |
loss of function - predicted |
ATM G2694E does not lie within any known functional domains of the Atm protein (UniProt.org). G2694E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2695C
|
missense |
loss of function - predicted |
ATM G2695C does not lie within any known functional domains of the Atm protein (UniProt.org). G2695C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2695S
|
missense |
loss of function - predicted |
ATM G2695S does not lie within any known functional domains of the Atm protein (UniProt.org). G2695S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2695V
|
missense |
loss of function - predicted |
ATM G2695V lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2695V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2765A
|
missense |
loss of function - predicted |
ATM G2765A lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2765A fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2765C
|
missense |
loss of function - predicted |
ATM G2765C lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2765C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2765S
|
missense |
loss of function |
ATM G2765S lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2765S results in decreased protein expression, loss of phosphorylation of Atm downstream targets, and defective G2/M checkpoint in response to irradiation in culture (PMID: 19431188), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
G2765V
|
missense |
loss of function - predicted |
ATM G2765V lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2765V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2777D
|
missense |
loss of function - predicted |
ATM G2777D lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2777D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2867E
|
missense |
loss of function - predicted |
ATM G2867E lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2867E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2869C
|
missense |
loss of function - predicted |
ATM G2869C lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2869C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2891C
|
missense |
loss of function - predicted |
ATM G2891C lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2891C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2891D
|
missense |
loss of function |
ATM G2891D lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891D results in reduced Atm expression in patient samples and in cell culture and decreased kinase activity in patient samples, in cell culture, and in an in vitro assay (PMID: 22146522), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
G2891S
|
missense |
loss of function - predicted |
ATM G2891S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2891S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2897S
|
missense |
loss of function - predicted |
ATM G2897S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2897S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2919D
|
missense |
loss of function - predicted |
ATM G2919D lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2919D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2919S
|
missense |
loss of function - predicted |
ATM G2919S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2919S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2922V
|
missense |
loss of function - predicted |
ATM G2922V lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2922V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G2925S
|
missense |
loss of function - predicted |
ATM G2925S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). G2925S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G294*
|
nonsense |
loss of function - predicted |
ATM G294* results in a premature truncation of the Atm protein at amino acid 294 of 3056 (UniProt.org). G294* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G3030E
|
missense |
loss of function - predicted |
ATM G3030E lies within the FATC domain of the Atm protein (UniProt.org). G3030E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G3030R
|
missense |
loss of function - predicted |
ATM G3030R lies within the FATC domain of the Atm protein (UniProt.org). G3030R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G3030V
|
missense |
loss of function - predicted |
ATM G3030V lies within the FATC domain of the Atm protein (UniProt.org). G3030V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G3051E
|
missense |
loss of function - predicted |
ATM G3051E lies within the FATC domain of the Atm protein (UniProt.org). G3051E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G3051R
|
missense |
loss of function - predicted |
ATM G3051R lies within the FATC domain of the Atm protein (UniProt.org). G3051R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G3051V
|
missense |
loss of function - predicted |
ATM G3051V lies within the FATC domain of the Atm protein (UniProt.org). G3051V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G330*
|
nonsense |
loss of function - predicted |
ATM G330* results in a premature truncation of the Atm protein at amino acid 330 of 3056 (UniProt.org). G330* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G330V
|
missense |
loss of function - predicted |
ATM G330V does not lie within any known functional domains of the Atm protein (UniProt.org). G330V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
G335E
|
missense |
loss of function - predicted |
ATM G335E does not lie within any known functional domains of the Atm protein (UniProt.org). G335E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
H2038R
|
missense |
loss of function - predicted |
ATM H2038R lies within the FAT domain of the Atm protein (UniProt.org). H2038R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
H2075L
|
missense |
loss of function - predicted |
ATM H2075L lies within the FAT domain of the Atm protein (UniProt.org). H2075L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
H2125L
|
missense |
loss of function - predicted |
ATM H2125L lies within the FAT domain of the Atm protein (UniProt.org). H2125L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
H2125R
|
missense |
loss of function - predicted |
ATM H2125R lies within the FAT domain of the Atm protein (UniProt.org). H2125R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
H2125Y
|
missense |
loss of function - predicted |
ATM H2125Y lies within the FAT domain of the Atm protein (UniProt.org). H2125Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
H2788Y
|
missense |
loss of function - predicted |
ATM H2788Y lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). H2788Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
H2872D
|
missense |
loss of function - predicted |
ATM H2872D lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). H2872D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
H2872Q
|
missense |
loss of function - predicted |
ATM H2872Q lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872Q fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
H2872R
|
missense |
loss of function - predicted |
ATM H2872R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
I2076S
|
missense |
loss of function - predicted |
ATM I2076S lies within the FAT domain of the Atm protein (UniProt.org). I2076S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
I2683M
|
missense |
loss of function - predicted |
ATM I2683M does not lie within any known functional domains of the Atm protein (UniProt.org). I2683M fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
I2683T
|
missense |
loss of function - predicted |
ATM I2683T does not lie within any known functional domains of the Atm protein (UniProt.org). I2683T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
I2702M
|
missense |
loss of function - predicted |
ATM I2702M lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). I2702M fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
I2876F
|
missense |
loss of function - predicted |
ATM I2876F lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). I2876F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
I2948F
|
missense |
loss of function - predicted |
ATM I2948F lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). I2948F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
I352N
|
missense |
loss of function - predicted |
ATM I352N does not lie within any known functional domains of the Atm protein (UniProt.org). I352N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K102*
|
nonsense |
loss of function - predicted |
ATM K102* results in a premature truncation of the Atm protein at amino acid 102 of 3056 (UniProt.org). K102* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K1030*
|
nonsense |
loss of function - predicted |
ATM K1030* results in a premature truncation of the Atm protein at amino acid 1030 of 3056 (UniProt.org). K1030* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K1057*
|
nonsense |
loss of function - predicted |
ATM K1057* results in a premature truncation of the Atm protein at amino acid 1057 of 3056 (UniProt.org). K1057* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K1904*
|
nonsense |
loss of function - predicted |
ATM K1904* results in a premature truncation of the Atm protein at amino acid 1904 of 3056 (UniProt.org). K1904* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K2237*
|
nonsense |
loss of function - predicted |
ATM K2237* results in a premature truncation of the Atm protein at amino acid 2237 of 3056 (UniProt.org). K2237* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K2363N
|
missense |
loss of function - predicted |
ATM K2363N lies within the FAT domain of the Atm protein (UniProt.org). K2363N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K241*
|
nonsense |
loss of function - predicted |
ATM K241* results in a premature truncation of the Atm protein at amino acid 241 of 3056 (UniProt.org). K241* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K2413Q
|
missense |
loss of function - predicted |
ATM K2413Q lies within the FAT domain of the Atm protein (UniProt.org). K2413Q fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K2431*
|
nonsense |
loss of function - predicted |
ATM K2431* results in a premature truncation of the Atm protein at amino acid 2431 of 3056 (UniProt.org). K2431* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K2440E
|
missense |
loss of function - predicted |
ATM K2440E lies within the FAT domain of the Atm protein (UniProt.org). K2440E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K2440N
|
missense |
loss of function - predicted |
ATM K2440N lies within the FAT domain of the Atm protein (UniProt.org). K2440N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K2670*
|
nonsense |
loss of function - predicted |
ATM K2670* results in a premature truncation of the Atm protein at amino acid 2670 of 3056 (UniProt.org). K2670* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K2747N
|
missense |
loss of function - predicted |
ATM K2747N lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). K2747N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K3053*
|
nonsense |
loss of function - predicted |
ATM K3053* results in a premature truncation of the Atm protein at amino acid 3053 of 3056 (UniProt.org). K3053* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K331E
|
missense |
loss of function - predicted |
ATM K331E does not lie within any known functional domains of the Atm protein (UniProt.org). K331E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K331N
|
missense |
loss of function - predicted |
ATM K331N does not lie within any known functional domains of the Atm protein (UniProt.org). K331N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K742*
|
nonsense |
loss of function - predicted |
ATM K742* results in a premature truncation of the Atm protein at amino acid 742 of 3056 (UniProt.org). K742* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
K792N
|
missense |
loss of function - predicted |
ATM K792N does not lie within any known functional domains of the Atm protein (UniProt.org). K792N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L100*
|
nonsense |
loss of function - predicted |
ATM L100* results in a premature truncation of the Atm protein at amino acid 100 of 3056 (UniProt.org). L100* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L100W
|
missense |
loss of function - predicted |
ATM L100W does not lie within any known functional domains of the Atm protein (UniProt.org). L100W fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1019P
|
missense |
loss of function - predicted |
ATM L1019P does not lie within any known functional domains of the Atm protein (UniProt.org). L1019P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1078P
|
missense |
loss of function - predicted |
ATM L1078P does not lie within any known functional domains of the Atm protein (UniProt.org). L1078P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1078R
|
missense |
loss of function - predicted |
ATM L1078R does not lie within any known functional domains of the Atm protein (UniProt.org). L1078R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1255*
|
nonsense |
loss of function - predicted |
ATM L1255* results in a premature truncation of the Atm protein at amino acid 1255 of 3056 (UniProt.org). L1255* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1322P
|
missense |
loss of function - predicted |
ATM L1322P does not lie within any known functional domains of the Atm protein (UniProt.org). L1322P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1348W
|
missense |
loss of function - predicted |
ATM L1348W does not lie within any known functional domains of the Atm protein (UniProt.org). L1348W fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L145R
|
missense |
loss of function - predicted |
ATM L145R does not lie within any known functional domains of the Atm protein (UniProt.org). L145R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1524R
|
missense |
loss of function - predicted |
ATM L1524R does not lie within any known functional domains of the Atm protein (UniProt.org). L1524R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1562*
|
nonsense |
loss of function - predicted |
ATM L1562* results in a premature truncation of the Atm protein at amino acid 1562 of 3056 (UniProt.org). L1562* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1647P
|
missense |
loss of function - predicted |
ATM L1647P does not lie within any known functional domains of the Atm protein (UniProt.org). L1647P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1718V
|
missense |
loss of function - predicted |
ATM L1718V does not lie within any known functional domains of the Atm protein (UniProt.org). L1718V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1764I
|
missense |
loss of function - predicted |
ATM L1764I does not lie within any known functional domains of the Atm protein (UniProt.org). L1764I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L186*
|
nonsense |
loss of function - predicted |
ATM L186* results in a premature truncation of the Atm protein at amino acid 186 of 3056 (UniProt.org). L186* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L1936S
|
missense |
loss of function - predicted |
ATM L1936S does not lie within any known functional domains of the Atm protein (UniProt.org). L1936S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2001S
|
missense |
loss of function - predicted |
ATM L2001S lies within the FAT domain of the Atm protein (UniProt.org). L2001S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2051P
|
missense |
loss of function - predicted |
ATM L2051P lies within the FAT domain of the Atm protein (UniProt.org). L2051P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2051R
|
missense |
loss of function - predicted |
ATM L2051R lies within the FAT domain of the Atm protein (UniProt.org). L2051R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2255I
|
missense |
loss of function - predicted |
ATM L2255I lies within the FAT domain of the Atm protein (UniProt.org). L2255I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L233*
|
nonsense |
loss of function - predicted |
ATM L233* results in a premature truncation of the Atm protein at amino acid 233 of 3056 (UniProt.org). L233* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2345F
|
missense |
loss of function - predicted |
ATM L2345F lies within the FAT domain of the Atm protein (UniProt.org). L2345F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2427P
|
missense |
loss of function |
ATM L2427P lies within the FAT domain of the Atm protein (UniProt.org). L2427P confers a loss of function to Atm as demonstrated by decreased Tp53 phosphorylation and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
L2427R
|
missense |
loss of function - predicted |
ATM L2427R lies within the FAT domain of the Atm protein (UniProt.org). L2427R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2445P
|
missense |
loss of function - predicted |
ATM L2445P lies within the FAT domain of the Atm protein (UniProt.org). L2445P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2447F
|
missense |
loss of function - predicted |
ATM L2447F lies within the FAT domain of the Atm protein (UniProt.org). L2447F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2447W
|
missense |
loss of function - predicted |
ATM L2447W lies within the FAT domain of the Atm protein (UniProt.org). L2447W fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2490F
|
missense |
loss of function - predicted |
ATM L2490F lies within the FAT domain of the Atm protein (UniProt.org). L2490F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2492F
|
missense |
loss of function - predicted |
ATM L2492F lies within the FAT domain of the Atm protein (UniProt.org). L2492F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2492R
|
missense |
loss of function - predicted |
ATM L2492R lies within the FAT domain of the Atm protein (UniProt.org). L2492R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2623F
|
missense |
loss of function - predicted |
ATM L2623F does not lie within any known functional domains of the Atm protein (UniProt.org). L2623F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2659*
|
nonsense |
loss of function - predicted |
ATM L2659* results in a premature truncation of the Atm protein at amino acid 2659 of 3056 (UniProt.org). L2659* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2659S
|
missense |
loss of function - predicted |
ATM L2659S does not lie within any known functional domains of the Atm protein (UniProt.org). L2659S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2715R
|
missense |
loss of function - predicted |
ATM L2715R lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2715R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2738*
|
nonsense |
loss of function - predicted |
ATM L2738* results in a premature truncation of the Atm protein at amino acid 2738 of 3056 (UniProt.org). L2738* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2767R
|
missense |
loss of function - predicted |
ATM L2767R lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2767R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2780I
|
missense |
loss of function - predicted |
ATM L2780I lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2780I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2780R
|
missense |
loss of function - predicted |
ATM L2780R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2780R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2850F
|
missense |
loss of function - predicted |
ATM L2850F lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2850F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2868F
|
missense |
loss of function - predicted |
ATM L2868F lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2868F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2890I
|
missense |
loss of function - predicted |
ATM L2890I lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2890P
|
missense |
loss of function - predicted |
ATM L2890P lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2890R
|
missense |
loss of function - predicted |
ATM L2890R lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2945M
|
missense |
loss of function - predicted |
ATM L2945M lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2945M fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2946S
|
missense |
loss of function - predicted |
ATM L2946S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2946S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2952I
|
missense |
loss of function - predicted |
ATM L2952I lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2952I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2952P
|
missense |
loss of function - predicted |
ATM L2952P lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2952P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L2952V
|
missense |
loss of function - predicted |
ATM L2952V lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2952V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L419*
|
nonsense |
loss of function - predicted |
ATM L419* results in a premature truncation of the Atm protein at amino acid 419 of 3056 (UniProt.org). L419* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L427*
|
nonsense |
loss of function - predicted |
ATM L427* results in a premature truncation of the Atm protein at amino acid 427 of 3056 (UniProt.org). L427* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L436P
|
missense |
loss of function - predicted |
ATM L436P does not lie within any known functional domains of the Atm protein (UniProt.org). L436P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L442P
|
missense |
loss of function - predicted |
ATM L442P does not lie within any known functional domains of the Atm protein (UniProt.org). L442P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L663*
|
nonsense |
loss of function - predicted |
ATM L663* results in a premature truncation of the Atm protein at amino acid 663 of 3056 (UniProt.org). L663* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L745*
|
nonsense |
loss of function - predicted |
ATM L745* results in a premature truncation of the Atm protein at amino acid 745 of 3056 (UniProt.org). L745* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L944R
|
missense |
loss of function - predicted |
ATM L944R does not lie within any known functional domains of the Atm protein (UniProt.org). L944R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
L991*
|
nonsense |
loss of function - predicted |
ATM L991* results in a premature truncation of the Atm protein at amino acid 991 of 3056 (UniProt.org). L991* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
M1628V
|
missense |
loss of function - predicted |
ATM M1628V does not lie within any known functional domains of the Atm protein (UniProt.org). M1628V fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
M1755I
|
missense |
loss of function - predicted |
ATM M1755I does not lie within any known functional domains of the Atm protein (UniProt.org). M1755I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
M946I
|
missense |
loss of function - predicted |
ATM M946I does not lie within any known functional domains of the Atm protein (UniProt.org). M946I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
N1719D
|
missense |
loss of function - predicted |
ATM N1719D does not lie within any known functional domains of the Atm protein (UniProt.org). N1719D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
N2494Y
|
missense |
loss of function - predicted |
ATM N2494Y lies within the FAT domain of the Atm protein (UniProt.org). N2494Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
N2501S
|
missense |
loss of function - predicted |
ATM N2501S lies within the FAT domain of the Atm protein (UniProt.org). N2501S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
N2632K
|
missense |
loss of function - predicted |
ATM N2632K does not lie within any known functional domains of the Atm protein (UniProt.org). N2632K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
N2875T
|
missense |
loss of function - predicted |
ATM N2875T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P1288Q
|
missense |
loss of function - predicted |
ATM P1288Q does not lie within any known functional domains of the Atm protein (UniProt.org). P1288Q fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P1379R
|
missense |
loss of function - predicted |
ATM P1379R lies within ABL1-interacting region of the Atm protein (UniProt.org). P1379R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P1526L
|
missense |
loss of function - predicted |
ATM P1526L does not lie within any known functional domains of the Atm protein (UniProt.org). P1526L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P1680R
|
missense |
loss of function - predicted |
ATM P1680R does not lie within any known functional domains of the Atm protein (UniProt.org). P1680R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P1829R
|
missense |
loss of function - predicted |
ATM P1829R does not lie within any known functional domains of the Atm protein (UniProt.org). P1829R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2353R
|
missense |
loss of function - predicted |
ATM P2353R lies within the FAT domain of the Atm protein (UniProt.org). P2353R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2665S
|
missense |
loss of function - predicted |
ATM P2665S does not lie within any known functional domains of the Atm protein (UniProt.org). P2665S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2699L
|
missense |
loss of function |
ATM P2699L lies within the ATP-binding pocket of the Atm protein (PMID: 21993670). P2699L results in decreased protein expression and a loss of phosphorylation of Atm downstream targets in response to irradiation in culture (PMID: 19431188) and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
P2699S
|
missense |
loss of function - predicted |
ATM P2699S lies within the ATP-binding pocket of the Atm protein (PMID: 21993670). P2699S is predicted to impair the kinase activity of Atm based on structural modeling (PMID: 21993670) and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2759H
|
missense |
loss of function - predicted |
ATM P2759H lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). P2759H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2759L
|
missense |
loss of function - predicted |
ATM P2759L lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). P2759L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2759S
|
missense |
loss of function - predicted |
ATM P2759S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). P2759S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2793T
|
missense |
loss of function - predicted |
ATM P2793T lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). P2793T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2829L
|
missense |
loss of function - predicted |
ATM P2829L lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). P2829L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2829S
|
missense |
loss of function - predicted |
ATM P2829S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). P2829S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2842L
|
missense |
loss of function - predicted |
ATM P2842L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). P2842L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P2907H
|
missense |
loss of function - predicted |
ATM P2907H lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). P2907H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
P292L
|
missense |
loss of function |
ATM P292L does not lie within any known functional domains of the Atm protein (UniProt.org). P292L confers a loss of function to Atm as demonstrated by decreased protein expression, reduced phosphorylation of Atm and downstream targets, and intermediate G2/M checkpoint in response to irradiation in culture (PMID: 19431188), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
P955S
|
missense |
loss of function - predicted |
ATM P955S does not lie within any known functional domains of the Atm protein (UniProt.org). P955S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1015*
|
nonsense |
loss of function - predicted |
ATM Q1015* results in a premature truncation of the Atm protein at amino acid 1015 of 3056 (UniProt.org). Q1015* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1116*
|
nonsense |
loss of function - predicted |
ATM Q1116* results in a premature truncation of the Atm protein at amino acid 1116 of 3056 (UniProt.org). Q1116* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1117*
|
nonsense |
loss of function - predicted |
ATM Q1117* results in a premature truncation of the Atm protein at amino acid 1117 of 3056 (UniProt.org). Q1117* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1310*
|
nonsense |
loss of function - predicted |
ATM Q1310* results in a premature truncation of the Atm protein at amino acid 1310 of 3056 (UniProt.org). Q1310* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q14*
|
nonsense |
loss of function - predicted |
ATM Q14* results in a premature truncation of the Atm protein at amino acid 14 of 3056 (UniProt.org). Q14* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q14P
|
missense |
loss of function - predicted |
ATM Q14P does not lie within any known functional domains of the Atm protein (UniProt.org). Q14P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1500*
|
nonsense |
loss of function - predicted |
ATM Q1500* results in a premature truncation of the Atm protein at amino acid 1500 of 3056 (UniProt.org). Q1500* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1531*
|
nonsense |
loss of function - predicted |
ATM Q1531* results in a premature truncation of the Atm protein at amino acid 1531 of 3056 (UniProt.org). Q1531* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1537L
|
missense |
loss of function - predicted |
ATM Q1537L does not lie within any known functional domains of the Atm protein (UniProt.org). Q1537L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1640*
|
nonsense |
loss of function - predicted |
ATM Q1640* results in a premature truncation of the Atm protein at amino acid 1640 of 3056 (UniProt.org). Q1640* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1709*
|
nonsense |
loss of function - predicted |
ATM Q1709* results in a premature truncation of the Atm protein at amino acid 1709 of 3056 (UniProt.org). Q1709* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q1839*
|
nonsense |
loss of function - predicted |
ATM Q1839* results in a premature truncation of the Atm protein at amino acid 1839 of 3056 (UniProt.org). Q1839* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2028*
|
nonsense |
loss of function - predicted |
ATM Q2028* results in a premature truncation of the Atm protein at amino acid 2028 of 3056 (UniProt.org). Q2028* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2066H
|
missense |
loss of function - predicted |
ATM Q2066H lies within the FAT domain of the Atm protein (UniProt.org). Q2066H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2066L
|
missense |
loss of function - predicted |
ATM Q2066L lies within the FAT domain of the Atm protein (UniProt.org). Q2066L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2066R
|
missense |
loss of function - predicted |
ATM Q2066R lies within the FAT domain of the Atm protein (UniProt.org). Q2066R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2177*
|
nonsense |
loss of function - predicted |
ATM Q2177* results in a premature truncation of the Atm protein at amino acid 2177 of 3056 (UniProt.org). Q2177* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2220*
|
nonsense |
loss of function - predicted |
ATM Q2220* results in a premature truncation of the Atm protein at amino acid 2220 of 3056 (UniProt.org). Q2220* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2269*
|
nonsense |
loss of function - predicted |
ATM Q2269* results in a premature truncation of the Atm protein at amino acid 2269 of 3056 (UniProt.org). Q2269* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2297*
|
nonsense |
loss of function - predicted |
ATM Q2297* results in a premature truncation of the Atm protein at amino acid 2297 of 3056 (UniProt.org). Q2297* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2414*
|
nonsense |
loss of function - predicted |
ATM Q2414* results in a premature truncation of the Atm protein at amino acid 2414 of 3056 (UniProt.org). Q2414* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2522H
|
missense |
loss of function - predicted |
ATM Q2522H lies within the FAT domain of the Atm protein (UniProt.org). Q2522H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2637*
|
nonsense |
loss of function - predicted |
ATM Q2637* results in a premature truncation of the Atm protein at amino acid 2637 of 3056 (UniProt.org). Q2637* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2637E
|
missense |
loss of function - predicted |
ATM Q2637E does not lie within any known functional domains of the Atm protein (UniProt.org). Q2637E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2641*
|
nonsense |
loss of function - predicted |
ATM Q2641* results in a premature truncation of the Atm protein at amino acid 2641 of 3056 (UniProt.org). Q2641* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2651*
|
nonsense |
loss of function - predicted |
ATM Q2651* results in a premature truncation of the Atm protein at amino acid 2651 of 3056 (UniProt.org). Q2651* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2684*
|
nonsense |
loss of function - predicted |
ATM Q2684* results in a premature truncation of the Atm protein at amino acid 2684 of 3056 (UniProt.org). Q2684* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2724K
|
missense |
loss of function - predicted |
ATM Q2724K lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). Q2724K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2730L
|
missense |
loss of function - predicted |
ATM Q2730L lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). Q2730L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2730R
|
missense |
loss of function - predicted |
ATM Q2730R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2730R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2733*
|
nonsense |
loss of function - predicted |
ATM Q2733* results in a premature truncation of the Atm protein at amino acid 2733 of 3056 (UniProt.org). Q2733* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2740*
|
nonsense |
loss of function - predicted |
ATM Q2740* results in a premature truncation of the Atm protein at amino acid 2740 of 3056 (UniProt.org). Q2740* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q2762*
|
nonsense |
loss of function - predicted |
ATM Q2762* results in a premature truncation of the Atm protein at amino acid 2762 of 3056 (UniProt.org). Q2762* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q3038*
|
nonsense |
loss of function - predicted |
ATM Q3038* results in a premature truncation of the Atm protein at amino acid 3038 of 3056 (UniProt.org). Q3038* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q401*
|
nonsense |
loss of function - predicted |
ATM Q401* results in a premature truncation of the Atm protein at amino acid 401 of 3056 (UniProt.org). Q401* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q445*
|
nonsense |
loss of function - predicted |
ATM Q445* results in a premature truncation of the Atm protein at amino acid 445 of 3056 (UniProt.org). Q445* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q446*
|
nonsense |
loss of function - predicted |
ATM Q446* results in a premature truncation of the Atm protein at amino acid 446 of 3056 (UniProt.org). Q446* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q466*
|
nonsense |
loss of function - predicted |
ATM Q466* results in a premature truncation of the Atm protein at amino acid 466 of 3056 (UniProt.org). Q466* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q501*
|
nonsense |
loss of function - predicted |
ATM Q501* results in a premature truncation of the Atm protein at amino acid 501 of 3056 (UniProt.org). Q501* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q513*
|
nonsense |
loss of function - predicted |
ATM Q513* results in a premature truncation of the Atm protein at amino acid 513 of 3056 (UniProt.org). Q513* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q675*
|
nonsense |
loss of function - predicted |
ATM Q675* results in a premature truncation of the Atm protein at amino acid 675 of 3056 (UniProt.org). Q675* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q684*
|
nonsense |
loss of function - predicted |
ATM Q684* results in a premature truncation of the Atm protein at amino acid 684 of 3056 (UniProt.org). Q684* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q781*
|
nonsense |
loss of function - predicted |
ATM Q781* results in a premature truncation of the Atm protein at amino acid 781 of 3056 (UniProt.org). Q781* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q852*
|
nonsense |
loss of function - predicted |
ATM Q852* results in a premature truncation of the Atm protein at amino acid 852 of 3056 (UniProt.org). Q852* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
Q91*
|
nonsense |
loss of function - predicted |
ATM Q91* results in a premature truncation of the Atm protein at amino acid 91 of 3056 (UniProt.org). Q91* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R1095I
|
missense |
loss of function - predicted |
ATM R1095I does not lie within any known functional domains of the Atm protein (UniProt.org). R1095I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R1304*
|
nonsense |
loss of function - predicted |
ATM R1304* results in a premature truncation of the Atm protein at amino acid 1304 of 3056 (UniProt.org). R1304* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R1466*
|
nonsense |
loss of function - predicted |
ATM R1466* results in a premature truncation of the Atm protein at amino acid 1466 of 3056 (UniProt.org). R1466* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R1466G
|
missense |
loss of function - predicted |
ATM R1466G does not lie within any known functional domains of the Atm protein (UniProt.org). R1466G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R1466P
|
missense |
loss of function - predicted |
ATM R1466P does not lie within any known functional domains of the Atm protein (UniProt.org). R1466P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R1882*
|
nonsense |
loss of function - predicted |
ATM R1882* results in a premature truncation of the Atm protein at amino acid 1882 of 3056 (UniProt.org). R1882* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R1917G
|
missense |
loss of function - predicted |
ATM R1917G does not lie within any known functional domains of the Atm protein (UniProt.org). R1917G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R1917T
|
missense |
loss of function - predicted |
ATM R1917T does not lie within any known functional domains of the Atm protein (UniProt.org). R1917T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R1973I
|
missense |
loss of function - predicted |
ATM R1973I lies within the FAT domain of the Atm protein (UniProt.org). R1973I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2060C
|
missense |
loss of function - predicted |
ATM R2060C lies within the FAT domain of the Atm protein (UniProt.org). R2060C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2060H
|
missense |
loss of function - predicted |
ATM R2060H lies within the FAT domain of the Atm protein (UniProt.org). R2060H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2105S
|
missense |
loss of function - predicted |
ATM R2105S lies within the FAT domain of the Atm protein (UniProt.org). R2105S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2105W
|
missense |
loss of function - predicted |
ATM R2105W lies within the FAT domain of the Atm protein (UniProt.org). R2105W fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2151K
|
missense |
loss of function - predicted |
ATM R2151K lies within the FAT domain of the Atm protein (UniProt.org). R2151K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2263*
|
nonsense |
loss of function - predicted |
ATM R2263* results in a premature truncation of the Atm protein at amino acid 2263 of 3056 (UniProt.org). R2263* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2419*
|
nonsense |
loss of function - predicted |
ATM R2419* results in a premature truncation of the Atm protein at amino acid 2419 of 3056 (UniProt.org). R2419* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2453P
|
missense |
loss of function - predicted |
ATM R2453P lies within the FAT domain of the Atm protein (UniProt.org). R2453P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2459P
|
missense |
loss of function - predicted |
ATM R2459P lies within the FAT domain of the Atm protein (UniProt.org). R2459P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2459S
|
missense |
loss of function - predicted |
ATM R2459S lies within the FAT domain of the Atm protein (UniProt.org). R2459S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2461P
|
missense |
loss of function - predicted |
ATM R2461P lies within the FAT domain of the Atm protein (UniProt.org). R2461P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R248*
|
nonsense |
loss of function - predicted |
ATM R248* results in a premature truncation of the Atm protein at amino acid 248 of 3056 (UniProt.org). R248* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2486*
|
nonsense |
loss of function - predicted |
ATM R2486* results in a premature truncation of the Atm protein at amino acid 2486 of 3056 (UniProt.org). R2486* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R248Q
|
missense |
loss of function - predicted |
ATM R248Q does not lie within any known functional domains of the Atm protein (UniProt.org). R248Q fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R250*
|
nonsense |
loss of function - predicted |
ATM R250* results in a premature truncation of the Atm protein at amino acid 250 of 3056 (UniProt.org). R250* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2526S
|
missense |
loss of function - predicted |
ATM R2526S lies within the FAT domain of the Atm protein (UniProt.org). R2526S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2580*
|
nonsense |
loss of function - predicted |
ATM R2580* results in a premature truncation of the Atm protein at amino acid 2580 of 3056 (UniProt.org). R2580* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2642I
|
missense |
loss of function - predicted |
ATM R2642I does not lie within any known functional domains of the Atm protein (UniProt.org). R2642I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2723*
|
nonsense |
loss of function - predicted |
ATM R2723* results in a premature truncation of the Atm protein at amino acid 2723 of 3056 (UniProt.org). R2723* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2763*
|
nonsense |
loss of function - predicted |
ATM R2763* results in a premature truncation of the Atm protein at amino acid 2763 of 3056 (UniProt.org). R2763* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2790S
|
missense |
loss of function - predicted |
ATM R2790S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2790S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2849*
|
nonsense |
loss of function - predicted |
ATM R2849* results in a premature truncation of the Atm protein at amino acid 2849 of 3056 (UniProt.org). R2849* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2854C
|
missense |
loss of function - predicted |
ATM R2854C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2854C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2854L
|
missense |
loss of function - predicted |
ATM R2854L lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2854L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2871K
|
missense |
loss of function - predicted |
ATM R2871K lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2871K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2912T
|
missense |
loss of function - predicted |
ATM R2912T lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2912T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2929K
|
missense |
loss of function - predicted |
ATM R2929K lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2929K fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2973M
|
missense |
loss of function - predicted |
ATM R2973M lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2973M fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2973T
|
missense |
loss of function - predicted |
ATM R2973T lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2973T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R2973W
|
missense |
loss of function - predicted |
ATM R2973W lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2973W fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R329T
|
missense |
loss of function - predicted |
ATM R329T does not lie within any known functional domains of the Atm protein (UniProt.org). R329T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R447*
|
nonsense |
loss of function - predicted |
ATM R447* results in a premature truncation of the Atm protein at amino acid 447 of 3056 (UniProt.org). R447* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
R76*
|
nonsense |
loss of function - predicted |
ATM R76* results in a premature truncation of the Atm protein at amino acid 76 of 3056 (UniProt.org). R76* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S1487*
|
nonsense |
loss of function - predicted |
ATM S1487* results in a premature truncation of the Atm protein at amino acid 1487 of 3056 (UniProt.org). S1487* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S1655F
|
missense |
loss of function - predicted |
ATM S1655F does not lie within any known functional domains of the Atm protein (UniProt.org). S1655F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S1947P
|
missense |
loss of function - predicted |
ATM S1947P lies within the FAT domain of the Atm protein (UniProt.org). S1947P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S2489F
|
missense |
loss of function - predicted |
ATM S2489F lies within the FAT domain of the Atm protein (UniProt.org). S2489F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S2685*
|
nonsense |
loss of function - predicted |
ATM S2685* results in a premature truncation of the Atm protein at amino acid 2685 of 3056 (UniProt.org). S2685* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S2685P
|
missense |
loss of function - predicted |
ATM S2685P does not lie within any known functional domains of the Atm protein (UniProt.org). S2685P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S2855R
|
missense |
loss of function - predicted |
ATM S2855R lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). S2855R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S2859Y
|
missense |
loss of function - predicted |
ATM S2859Y lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). S2859Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S421*
|
nonsense |
loss of function - predicted |
ATM S421* results in a premature truncation of the Atm protein at amino acid 421 of 3056 (UniProt.org). S421* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S601I
|
missense |
loss of function - predicted |
ATM S601I does not lie within any known functional domains of the Atm protein (UniProt.org). S601I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S677N
|
missense |
loss of function - predicted |
ATM S677N does not lie within any known functional domains of the Atm protein (UniProt.org). S677N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S698*
|
nonsense |
loss of function - predicted |
ATM S698* results in a premature truncation of the Atm protein at amino acid 698 of 3056 (UniProt.org). S698* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S712*
|
nonsense |
loss of function - predicted |
ATM S712* results in a premature truncation of the Atm protein at amino acid 712 of 3056 (UniProt.org). S712* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S719*
|
nonsense |
loss of function - predicted |
ATM S719* results in a premature truncation of the Atm protein at amino acid 719 of 3056 (UniProt.org). S719* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S83*
|
nonsense |
loss of function - predicted |
ATM S83* results in a premature truncation of the Atm protein at amino acid 83 of 3056 (UniProt.org). S83* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S83L
|
missense |
loss of function - predicted |
ATM S83L does not lie within any known functional domains of the Atm protein (UniProt.org). S83L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
S853*
|
nonsense |
loss of function - predicted |
ATM S853* results in a premature truncation of the Atm protein at amino acid 853 of 3056 (UniProt.org). S853* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T1743I
|
missense |
loss of function |
ATM T1743I does not lie within any known functional domains of the Atm protein (UniProt.org). T1743I results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188) and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
T1953A
|
missense |
loss of function - predicted |
ATM T1953A lies within the FAT domain of the Atm protein (UniProt.org). T1953A fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T2666A
|
missense |
loss of function |
ATM T2666A does not lie within any known functional domains of the Atm protein (UniProt.org). T2666A results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and decreased Atm expression and downstream signaling, failure to induce the G1/S checkpoint, and increased radiosensitivity in culture (PMID: 27602502), and failure to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
T2666I
|
missense |
loss of function - predicted |
ATM T2666I does not lie within any known functional domains of the Atm protein (UniProt.org). T2666I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T2682I
|
missense |
loss of function - predicted |
ATM T2682I does not lie within any known functional domains of the Atm protein (UniProt.org). T2682I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T2853R
|
missense |
loss of function - predicted |
ATM T2853R lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). T2853R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T2921M
|
missense |
loss of function - predicted |
ATM T2921M lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). T2921M fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T2921R
|
missense |
loss of function - predicted |
ATM T2921R lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). T2921R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T2934I
|
missense |
loss of function - predicted |
ATM T2934I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2934I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T2934N
|
missense |
loss of function - predicted |
ATM T2934N lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). T2934N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T2947N
|
missense |
loss of function - predicted |
ATM T2947N lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). T2947N fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
T2947S
|
missense |
loss of function |
ATM T2947S (also referred to as T2946S) lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). T2947S results in decreased kinase activity in a patient sample (PMID: 16014569), decreased ATM-dependent DNA damage response in a patient sample (PMID: 25840602), and decreased Atm, Tp53, and Smc1 phosphorylation upon DNA damage in a patient sample (PMID: 17968022), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
T554M
|
missense |
loss of function - predicted |
ATM T554M does not lie within any known functional domains of the Atm protein (UniProt.org). T554M fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V1678G
|
missense |
loss of function - predicted |
ATM V1678G does not lie within any known functional domains of the Atm protein (UniProt.org). V1678G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V1941F
|
missense |
loss of function - predicted |
ATM V1941F lies within the FAT domain of the Atm protein (UniProt.org). V1941F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2424G
|
missense |
loss of function |
ATM V2424G lies within the FAT domain of the Atm protein (UniProt.org). V2424G results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and intermediate G2/M checkpoint in response to irradiation in culture (PMID: 19431188, PMID: 11830610), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
V2441D
|
missense |
loss of function - predicted |
ATM V2441D lies within the FAT domain of the Atm protein (UniProt.org). V2441D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2716A
|
missense |
loss of function |
ATM V2716A lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2716A confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951). |
|
|
ATM
|
V2757E
|
missense |
loss of function - predicted |
ATM V2757E lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2757E fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2757M
|
missense |
loss of function - predicted |
ATM V2757M lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2757M fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2823F
|
missense |
loss of function - predicted |
ATM V2823F lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2823F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2830D
|
missense |
loss of function - predicted |
ATM V2830D lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2830D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2862F
|
missense |
loss of function - predicted |
ATM V2862F lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2862F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2892D
|
missense |
loss of function - predicted |
ATM V2892D lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2892D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2892G
|
missense |
loss of function - predicted |
ATM V2892G lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2892G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2906A
|
missense |
loss of function - predicted |
ATM V2906A lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2906A fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2926F
|
missense |
loss of function - predicted |
ATM V2926F lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2926F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2937A
|
missense |
loss of function - predicted |
ATM V2937A lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2937A fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2937G
|
missense |
loss of function - predicted |
ATM V2937G lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2937G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2951D
|
missense |
loss of function - predicted |
ATM V2951D lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2951D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2951F
|
missense |
loss of function - predicted |
ATM V2951F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2951F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2951I
|
missense |
loss of function - predicted |
ATM V2951I lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2951I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V2951L
|
missense |
loss of function - predicted |
ATM V2951L lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2951L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
V723G
|
missense |
loss of function - predicted |
ATM V723G does not lie within any known functional domains of the Atm protein (UniProt.org). V723G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
W1058*
|
nonsense |
loss of function - predicted |
ATM W1058* results in a premature truncation of the Atm protein at amino acid 1058 of 3056 (UniProt.org). W1058* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
W1058C
|
missense |
loss of function - predicted |
ATM W1058C does not lie within any known functional domains of the Atm protein (UniProt.org). W1058C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
W1058R
|
missense |
loss of function - predicted |
ATM W1058R does not lie within any known functional domains of the Atm protein (UniProt.org). W1058R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
W164*
|
nonsense |
loss of function - predicted |
ATM W164* results in a premature truncation of the Atm protein at amino acid 164 of 3056 (UniProt.org). W164* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
W164C
|
missense |
loss of function - predicted |
ATM W164C does not lie within any known functional domains of the Atm protein (UniProt.org). W164C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
W1710*
|
nonsense |
loss of function - predicted |
ATM W1710* results in a premature truncation of the Atm protein at amino acid 1710 of 3056 (UniProt.org). W1710* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
W2042L
|
missense |
loss of function - predicted |
ATM W2042L lies within the FAT domain of the Atm protein (UniProt.org). W2042L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
|
W2091*
|
nonsense |
loss of function - predicted |
ATM W2091* results in a premature truncation of the Atm protein at amino acid 2091 of 3056 (UniProt.org). W2091* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
|
|
ATM
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W2104*
|
nonsense |
loss of function - predicted |
ATM W2104* results in a premature truncation of the Atm protein at amino acid 2104 of 3056 (UniProt.org). W2104* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2109*
|
nonsense |
loss of function - predicted |
ATM W2109* results in a premature truncation of the Atm protein at amino acid 2109 of 3056 (UniProt.org).W2109* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2300L
|
missense |
loss of function - predicted |
ATM W2300L lies within the FAT domain of the Atm protein (UniProt.org). W2300L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2483*
|
nonsense |
loss of function - predicted |
ATM W2483* results in a premature truncation of the Atm protein at amino acid 2483 of 3056 (UniProt.org). W2483* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2491C
|
missense |
loss of function - predicted |
ATM W2491C lies within the FAT domain of the Atm protein (UniProt.org). W2491C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2638*
|
nonsense |
loss of function - predicted |
ATM W2638* results in a premature truncation of the Atm protein at amino acid 2638 of 3056 (UniProt.org). W2638* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2769*
|
nonsense |
loss of function - predicted |
ATM W2769* results in a premature truncation of the Atm protein at amino acid 2769 of 3056 (UniProt.org). W2769* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2769R
|
missense |
loss of function - predicted |
ATM W2769R lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). W2769R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2845C
|
missense |
loss of function - predicted |
ATM W2845C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). W2845C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2960*
|
nonsense |
loss of function - predicted |
ATM W2960* results in a premature truncation of the Atm protein at amino acid 2960 of 3056 (UniProt.org). W2960* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2960C
|
missense |
loss of function - predicted |
ATM W2960C lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). W2960C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W2960L
|
missense |
loss of function - predicted |
ATM W2960L lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). W2960L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W3052*
|
nonsense |
loss of function - predicted |
ATM W3052* results in a premature truncation of the Atm protein at amino acid 3052 of 3056 (UniProt.org). W3052* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W3052C
|
missense |
loss of function - predicted |
ATM W3052C lies within the FATC domain of the Atm protein (UniProt.org). W3052C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W3052L
|
missense |
loss of function - predicted |
ATM W3052L lies within the FATC domain of the Atm protein (UniProt.org). W3052L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W3055*
|
nonsense |
loss of function - predicted |
ATM W3055* results in a premature truncation of the Atm protein at amino acid 3055 of 3056 (UniProt.org). W3055* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W3055L
|
missense |
loss of function - predicted |
ATM W3055L lies within the FATC domain of the Atm protein (UniProt.org). W3055L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W308*
|
nonsense |
loss of function - predicted |
ATM W308* results in a premature truncation of the Atm protein at amino acid 308 of 3056 (UniProt.org). W308* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
W412L
|
missense |
loss of function - predicted |
ATM W412L does not lie within any known functional domains of the Atm protein (UniProt.org). W412L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y1216*
|
nonsense |
loss of function - predicted |
ATM Y1216* results in a premature truncation of the Atm protein at amino acid 1216 of 3056 (UniProt.org). Y1216* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y175*
|
nonsense |
loss of function - predicted |
ATM Y175* results in a premature truncation of the Atm protein at amino acid 175 of 3056 (UniProt.org). Y175* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y1938C
|
missense |
loss of function - predicted |
ATM Y1938C does not lie within any known functional domains of the Atm protein (UniProt.org). Y1938C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y1938H
|
missense |
loss of function - predicted |
ATM Y1938H does not lie within any known functional domains of the Atm protein (UniProt.org). Y1938H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y2019C
|
missense |
loss of function |
ATM Y2019C lies within the FAT domain of the Atm protein (UniProt.org). Y2019C retains Atm expression and phosphorylation but results in decreased phosphorylation of Atm downstream targets in response to irradiation in culture (PMID: 19431188) and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), |
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ATM
|
Y2080C
|
missense |
loss of function - predicted |
ATM Y2080C lies within the FAT domain of the Atm protein (UniProt.org). Y2080C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y2437*
|
nonsense |
loss of function - predicted |
ATM Y2437* results in a premature truncation of the Atm protein at amino acid 2437 of 3056 (UniProt.org). Y2437* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y2627*
|
nonsense |
loss of function - predicted |
ATM Y2627* results in a premature truncation of the Atm protein at amino acid 2627 of 3056 (UniProt.org). Y2627* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y2627C
|
missense |
loss of function - predicted |
ATM Y2627C does not lie within any known functional domains of the Atm protein (UniProt.org). Y2627C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y2627H
|
missense |
loss of function - predicted |
ATM Y2627H does not lie within any known functional domains of the Atm protein (UniProt.org). Y2627H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y2755*
|
nonsense |
loss of function - predicted |
ATM Y2755* results in a premature truncation of the Atm protein at amino acid 2755 of 3056 (UniProt.org). Y2755* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y2833D
|
missense |
loss of function - predicted |
ATM Y2833D lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). Y2833D fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y2852C
|
missense |
loss of function - predicted |
ATM Y2852C lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). Y2852C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y2969*
|
nonsense |
loss of function - predicted |
ATM Y2969* results in a premature truncation of the Atm protein at amino acid 2969 of 3056 (UniProt.org). Y2969* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y332H
|
missense |
loss of function - predicted |
ATM Y332H does not lie within any known functional domains of the Atm protein (UniProt.org). Y332H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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ATM
|
Y731*
|
nonsense |
loss of function - predicted |
ATM Y731* results in a premature truncation of the Atm protein at amino acid 731 of 3056 (UniProt.org). Y731* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function. |
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