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Gene | ATM |
Variant | S2394L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM S2394L lies within the FAT domain of the Atm protein (UniProt.org). S2394L results in decreased protein expression and failure to phosphorylate Atm and downstream targets in response to irradiation in cell culture (PMID: 18573109, PMID: 19431188, PMID: 26677768). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM S2394L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108329112C>T |
cDNA | c.7181C>T |
Protein | p.S2394L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047426975.1 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108329112C>T | c.7181C>T | p.S2394L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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