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Gene ATR
Variant E1229*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATR E1229* results in a premature truncation of the Atr protein at amino acid 1229 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), E1229* is predicted to lead to a loss of Atr protein function.
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR inact mut ATR E1229*

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Transcript NM_001184.4
gDNA chr3:g.142538522C>A
cDNA c.3685G>T
Protein p.E1229*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001184 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_011512926 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_011512924.2 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448364.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448360.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_011512924 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_011512924.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448362.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38

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