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Gene | ATR |
Variant | R1647C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR R1647C lies within the FAT domain of the Atr protein (UniProt.org). R1647C has been identified in sequencing studies (PMID: 32321774), 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 R1647C |
Transcript | NM_001184.4 |
gDNA | chr3:g.142508023G>A |
cDNA | c.4939C>T |
Protein | p.R1647C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184 | chr3:g.142508023G>A | c.4939C>T | p.R1647C | RefSeq | GRCh38/hg38 |
NM_001184.4 | chr3:g.142508023G>A | c.4939C>T | p.R1647C | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142508023G>A | c.4939C>T | p.R1647C | RefSeq | GRCh38/hg38 |
XM_047448363.1 | chr3:g.142508023G>A | c.4939C>T | p.R1647C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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