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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 |
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_011512926 | 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 |
XM_011512924.1 | chr3:g.(142555898_142555899) | c.(2320_2319) | p.I774fs | RefSeq | GRCh38/hg38 |
XM_047448364.1 | 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 |
NM_001184 | 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 |
NM_001184.3 | 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_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 |
XM_047448360.1 | chr3:g.(142555898_142555899) | c.(2320_2319) | p.I774fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATR I774fs | loss of function - predicted |