Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | ATR |
Variant | R2407C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR R2407C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2407C has been identified in sequencing studies (PMID: 28292439, PMID: 32300177), 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 R2407C |
Transcript | NM_001184.4 |
gDNA | chr3:g.142459357G>A |
cDNA | c.7219C>T |
Protein | p.R2407C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184 | chr3:g.142459357G>A | c.7219C>T | p.R2407C | RefSeq | GRCh38/hg38 |
NM_001184.4 | chr3:g.142459357G>A | c.7219C>T | p.R2407C | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142459357G>A | c.7219C>T | p.R2407C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATR R2407C | unknown |