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Gene | ATM |
Variant | V1941L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM V1941L lies within the FAT domain of the Atm protein (UniProt.org). V1941L results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and failure to induce apoptosis in response to irradiation in culture (PMID: 19431188, PMID: 16014569). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM V1941L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108310218G>C |
cDNA | c.5821G>C |
Protein | p.V1941L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000051.4 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108310218G>C | c.5821G>C | p.V1941L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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