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Gene | ATM |
Variant | E2668G |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM E2668G does not lie within any known functional domains of the Atm protein (UniProt.org). E2668G demonstrates phosphorylation levels of Atm and downstream targets in response to irradiation similar to wild-type Atm in cultured cells (PMID: 19431188), and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM E2668G |
Transcript | NM_000051.4 |
gDNA | chr11:g.108333961A>G |
cDNA | c.8003A>G |
Protein | p.E2668G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006718843 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108333961A>G | c.8003A>G | p.E2668G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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