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Gene | ATR |
Variant | Y2132D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR Y2132D lies within the FAT domain of the Atr protein (UniProt.org). Y2132D has been identified in sequencing studies (PMID: 17344846, PMID: 25589003, PMID: 31874108), 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 Y2132D |
Transcript | NM_001184.4 |
gDNA | chr3:g.142469495A>C |
cDNA | c.6394T>G |
Protein | p.Y2132D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184.4 | chr3:g.142469495A>C | c.6394T>G | p.Y2132D | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142469495A>C | c.6394T>G | p.Y2132D | RefSeq | GRCh38/hg38 |
NM_001184 | chr3:g.142469495A>C | c.6394T>G | p.Y2132D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATR Y2132D | unknown |