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Gene | ATM |
Variant | P292L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM P292L does not lie within any known functional domains of the Atm protein (UniProt.org). P292L results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and impaired G2/M checkpoint in response to irradiation in culture (PMID: 19431188). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM P292L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108245000C>T |
cDNA | c.875C>T |
Protein | p.P292L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542843.3 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM P292L | loss of function | Olaparib |