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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 |
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_011512925.2 | 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 |
NM_001184.4 | 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 |
NM_001354579.2 | 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_047448362.1 | 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 |
XM_011512924.1 | 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 |
XM_047448364.1 | 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 |
XM_047448363.1 | chr3:g.142562747T>C | c.655A>G | p.I219V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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