Gene Variant Detail

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Gene ATR
Variant R1814Kfs*8
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATR R1814Kfs*8 indicates a shift in the reading frame beginning at amino acid 1814 and terminating 8 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), R1814Kfs*8 is predicted to lead to a loss of Atr protein function.
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR inact mut ATR R1814Kfs*8

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Transcript NM_001184.4
gDNA chr3:g.142498721dupT
cDNA c.5440dupA
Protein p.R1814Kfs*8
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001184.4 chr3:g.142498721dupT c.5440dupA p.R1814Kfs*8 RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142498721dupT c.5440dupA p.R1814Kfs*8 RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142498721dupT c.5440dupA p.R1814Kfs*8 RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries