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Gene | ATM |
Variant | C2464R |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM C2464R lies within the FAT domain of the Atm protein (UniProt.org). C2464R results in kinase activity, and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM C2464R |
Transcript | NM_000051.4 |
gDNA | chr11:g.108330296T>C |
cDNA | c.7390T>C |
Protein | p.C2464R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006718843.4 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108330296T>C | c.7390T>C | p.C2464R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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