Gene Variant Detail

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Gene ATR
Variant I219V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATR I219V does not lie within any known functional domains of the Atr protein (UniProt.org). I219V has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR I219V

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Transcript NM_001184.4
gDNA chr3:g.142562747T>C
cDNA c.655A>G
Protein p.I219V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512924.1 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
XM_011512925.2 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001354579.1 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
XM_011512924.2 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001354579.2 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
XM_047448360.1 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
XM_047448364.1 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
XM_047448362.1 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38
XM_011512925.1 chr3:g.142562747T>C c.655A>G p.I219V RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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