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Gene | ATR |
Variant | E2626* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR E2626* results in a premature truncation of the Atr protein at amino acid 2626 of 2644 (UniProt.org). E2626* has been identified in sequencing studies (PMID: 34568053), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATR mutant ATR E2626* |
Transcript | NM_001184.4 |
gDNA | chr3:g.142449488C>A |
cDNA | c.7876G>T |
Protein | p.E2626* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184.4 | chr3:g.142449488C>A | c.7876G>T | p.E2626* | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142449488C>A | c.7876G>T | p.E2626* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATR E2626* | unknown |