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Gene | ATM |
Variant | C2488Y |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM C2488Y lies within the FAT domain of the Atm protein (UniProt.org). C2488Y retains Atm protein expression but fails to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM C2488Y |
Transcript | NM_000051.4 |
gDNA | chr11:g.108330369G>A |
cDNA | c.7463G>A |
Protein | p.C2488Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542843.3 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108330369G>A | c.7463G>A | p.C2488Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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