Gene Variant Detail

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Gene ATM
Variant R3047*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R3047* results in a premature truncation of the Atm protein at amino acid 3047 of 3056 (UniProt.org). R3047* results in a loss of reactive oxygen species-induced phosphorylation of Atm and downstream targets (PMID: 20966255), but demonstrates conflicting effects on DNA-damage induced ATM activation as indicated by loss of Atm and phosphorylation of downstream targets in response to ionizing irradiation in culture (PMID: 19431188), while resulting in Tp53 phosphorylation in response to MRN complex in an in vitro assay and Atm phosphorylation upon camptothecin treatment in patient cell culture (PMID: 20966255), 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 R3047*

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Transcript NM_000051.3
gDNA chr11:g.108365476C>T
cDNA c.9139C>T
Protein p.R3047*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017789.2 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_017017790 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_017017789 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_011542840 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
NM_000051 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_005271561 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_006718843 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38
XM_005271562 chr11:g.108365476C>T c.9139C>T p.R3047* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References