Gene Variant Detail

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Gene ATR
Variant I774fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATR I774fs results in a change in the amino acid sequence of the Atr protein beginning at aa 774 of 2644, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), I774fs is predicted to lead to a loss of Atr protein function.
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR inact mut ATR I774fs

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Transcript NM_001184.4
gDNA chr3:g.(142555898_142555899)
cDNA c.(2320_2319)
Protein p.I774fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047448364.1 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
XM_011512924 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
NM_001184.3 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
XM_047448362.1 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
NM_001184 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
NM_001184.4 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
XM_011512924.2 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
XM_047448360.1 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
XM_011512926 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38
XM_011512924.1 chr3:g.(142555898_142555899) c.(2320_2319) p.I774fs RefSeq GRCh38/hg38

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