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Gene ATR
Variant E254G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATR E254G does not lie within any known functional domains of the Atr protein (UniProt.org). E254G has been identified in the scientific literature (PMID: 15987455), 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 E254G

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Transcript NM_001184.4
gDNA chr3:g.142562641T>C
cDNA c.761A>G
Protein p.E254G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512924 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_011512924.2 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_017006643 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_047448362.1 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_047448364.1 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_011512925.1 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
NM_001354579.2 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_011512925.2 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
NM_001354579.1 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_011512925 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_011512924.1 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_011512926 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
NM_001184 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38
XM_047448360.1 chr3:g.142562641T>C c.761A>G p.E254G RefSeq GRCh38/hg38

Filtering

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

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