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Gene | ATM |
Variant | V1268fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM V1268fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1268 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V1268fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1268 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM V1268fs |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108284281_108284282) |
cDNA | c.(3802_3801) |
Protein | p.V1268fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000051.3 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.(108284281_108284282) | c.(3802_3801) | p.V1268fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM V1268fs | loss of function - predicted | Olaparib |