Gene Variant Detail

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Gene ATR
Variant I774Yfs*5
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATR I774Yfs*5 indicates a shift in the reading frame beginning at amino acid 774 and terminating 5 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), I774Yfs*5 is predicted to lead to a loss of Atr protein function.
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR inact mut ATR I774fs ATR I774Yfs*5

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Transcript NM_001184.4
gDNA chr3:g.142555907delT
cDNA c.2320delA
Protein p.I774Yfs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047448360.1 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
XM_047448362.1 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
XM_011512924.2 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
XM_047448364.1 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
NM_001184 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
XM_011512924 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
XM_011512924.1 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
XM_011512926 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142555907delT c.2320delA p.I774Yfs*5 RefSeq GRCh38/hg38

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