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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 confers a loss of function to Atm as demonstrated by 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_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_005271561 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
XM_011542843.3 | 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 |
XM_017017791 | 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_017017790 | 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_011542840.4 | 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 |
XM_011542840 | 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_005271562.5 | 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 |
XM_017017791.1 | 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 |
NM_001351834.2 | 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_006718843.5 | 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_017017790.3 | 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 |
XM_011542843 | 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_011542840.3 | 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_017017790.2 | 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_017017792 | chr11:g.108245000C>T | c.875C>T | p.P292L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM P292L | loss of function | Olaparib |