ATM
|
F2140V
|
missense |
unknown |
ATM F2140V lies within the FAT domain of the Atm protein (UniProt.org). F2140V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
|
ATM
|
L1408I
|
missense |
unknown |
ATM L1408I does not lie within any known functional domains of the Atm protein (UniProt.org). L1408I has been identified in sequencing studies (PMID: 29107334, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
|
ATM
|
L2077I
|
missense |
unknown |
ATM L2077I lies within the FAT domain of the Atm protein (UniProt.org). L2077I has been identified in sequencing studies (PMID: 22810696, PMID: 34954471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
|
ATM
|
P2353T
|
missense |
unknown |
ATM P2353T lies within the FAT domain of the Atm protein (UniProt.org). P2353T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
|
ATM
|
R2598Q
|
missense |
unknown |
ATM R2598Q does not lie within any known functional domains of the Atm protein (UniProt.org). R2598Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
|
ATR
|
R177Q
|
missense |
unknown |
ATR R177Q does not lie within any known functional domains of the Atr protein (UniProt.org). R177Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Aug 2024). |
|
CHEK1
|
K470*
|
nonsense |
unknown |
CHEK1 K470* results in a premature truncation of the Chek1 protein at amino acid 470 of 476 (UniProt.org). K470* has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Nov 2024). |
|
CSF3R
|
R190H
|
missense |
unknown |
CSF3R R190H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). R190H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024). |
|
CSF3R
|
R269C
|
missense |
unknown |
CSF3R R269C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R269C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024). |
|
CTNNB1
|
D162E
|
missense |
unknown |
CTNNB1 D162E lies within ARM repeat 1 of the Ctnnb1 protein (UniProt.org). D162E has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024). |
|
CTNNB1
|
R515Q
|
missense |
unknown |
CTNNB1 R515Q lies within ARM repeat 9 of the Ctnnb1 protein (UniProt.org). R515Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Sep 2024). |
|
FBXW7
|
D520N
|
missense |
unknown |
FBXW7 D520N lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). D520N has been identified in sequencing studies (PMID: 22810696, PMID: 24121792, PMID: 34074070), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Aug 2024). |
|
FBXW7
|
G437R
|
missense |
unknown |
FBXW7 G437R lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G437R has been identified in sequencing studies (PMID: 34975100, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Oct 2024). |
|
FBXW7
|
R14Q
|
missense |
unknown |
FBXW7 R14Q does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R14Q has been identified in sequencing studies (PMID: 22810696, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Oct 2024). |
|
FBXW7
|
R179H
|
missense |
unknown |
FBXW7 R179H does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R179H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Oct 2024). |
|
FGFR1
|
G610D
|
missense |
unknown |
FGFR1 G610D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G610D has been identified in the scientific literature (PMID: 36462464, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Apr 2024). |
|
FGFR1
|
S430F
|
missense |
unknown |
FGFR1 S430F lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). S430F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024). |
|
FGFR2
|
D336N
|
missense |
unknown |
FGFR2 D336N lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). D336N has been identified in sequencing studies (PMID: 22810696, PMID: 26373574), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
|
FGFR2
|
L551I
|
missense |
unknown |
FGFR2 L551I lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L551I has been identified in sequencing studies (PMID: 22810696, PMID: 38983151), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
|
FLT3
|
D895Y
|
missense |
unknown |
FLT3 D895Y lies within the protein kinase domain of the Flt3 protein (UniProt.org). D895Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024). |
|
FLT3
|
S71I
|
missense |
unknown |
FLT3 S71I lies within the extracellular domain of the Flt3 protein (UniProt.org). S71I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024). |
|
IDH2
|
I441T
|
missense |
unknown |
IDH2 I441T does not lie within any known functional domains of the Idh2 protein (UniProt.org). I441T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, May 2024). |
|
JAK2
|
R215Q
|
missense |
unknown |
JAK2 R215Q lies within the FERM domain of the Jak2 protein (UniProt.org). R215Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024). |
|
KMT2A
|
E1060D
|
missense |
unknown |
KMT2A E1060D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E1060D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jul 2024). |
|
KMT2A
|
E3448K
|
missense |
unknown |
KMT2A E3448K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E3448K has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
|
KMT2A
|
G3376D
|
missense |
unknown |
KMT2A G3376D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G3376D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
|
KMT2A
|
P3095Q
|
missense |
unknown |
KMT2A P3095Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P3095Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
|
KMT2A
|
R736M
|
missense |
unknown |
KMT2A R736M does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R736M has been identified in sequencing studies (PMID: 22810696, PMID: 32732356), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
|
KMT2A
|
S3576F
|
missense |
unknown |
KMT2A S3576F does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S3576F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jul 2024). |
|
KMT2A
|
S534L
|
missense |
unknown |
KMT2A S534L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S534L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Oct 2024). |
|
MLH1
|
E703A
|
missense |
unknown |
MLH1 E703A lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). E703A has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2024). |
|
MLH1
|
R9Q
|
missense |
unknown |
MLH1 R9Q lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R9Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2024). |
|
MSH6
|
A457D
|
missense |
unknown |
MSH6 A457D lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). A457D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024). |
|
MSH6
|
K185T
|
missense |
unknown |
MSH6 K185T does not lie within any known functional domains of the Msh6 protein (UniProt.org). K185T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024). |
|
MSH6
|
L979V
|
missense |
unknown |
MSH6 L979V lies within the clamp domain of the Msh6 protein (PMID: 17531815). L979V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024). |
|
PIK3CA
|
R777M
|
missense |
unknown |
PIK3CA R777M lies within the PI3K/PI4K catalytic domain of the Pik3ca protein (UniProt.org). R777M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2024). |
|
RB1
|
M695V
|
missense |
unknown |
RB1 M695V lies within domain B of the Rb1 protein (UniProt.org). M695V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024). |
|
RET
|
R77H
|
missense |
unknown |
RET R77H lies within the extracellular domain of the Ret protein (UniProt.org). R77H has been identified in sequencing studies (PMID: 27626691, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2024). |
|
ROS1
|
A1964T
|
missense |
unknown |
ROS1 A1964T lies within the protein kinase domain of the Ros1 protein (UniProt.org). A1964T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Mar 2024). |
|
SMARCA4
|
A1536T
|
missense |
unknown |
SMARCA4 A1536T lies within the Bromo domain of the Smarca4 protein (UniProt.org). A1536T has been identified in sequencing studies (PMID: 22810696, PMID: 27149842, PMID: 30269082), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Aug 2024). |
|
SMARCA4
|
A406T
|
missense |
unknown |
SMARCA4 A406T does not lie within any known functional domains of the Smarca4 protein (UniProt.org). A406T has been identified in sequencing studies (PMID: 22810696, PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Aug 2024). |
|
SMARCA4
|
R381Q
|
missense |
unknown |
SMARCA4 R381Q does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R381Q has been identified in sequencing studies (PMID: 22810696, PMID: 29107334, PMID: 35135110), but has not been biochemically characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2024). |
|
SMARCB1
|
D104N
|
missense |
unknown |
SMARCB1 D104N lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). D104N has been identified in sequencing studies (PMID: 30057548, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024). |
|
SMARCB1
|
F279C
|
missense |
unknown |
SMARCB1 F279C lies within repeat 2 of the Smarcb1 protein (UniProt.org). F279C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024). |
|
TSC1
|
L72R
|
missense |
unknown |
TSC1 L72R does not lie within any known functional domains of the Tsc1 protein (UniProt.org). L72R has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Nov 2024). |
|