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Gene | ATR |
Variant | R177Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR R177Q does not lie within any known functional domains of the Atr protein (UniProt.org). R177Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATR mutant ATR R177Q |
Transcript | NM_001184.4 |
gDNA | chr3:g.142562872C>T |
cDNA | c.530G>A |
Protein | p.R177Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |