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 | G2530C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR G2530C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). G2530C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATR mutant ATR G2530C |
Transcript | NM_001184.4 |
gDNA | chr3:g.142457671C>A |
cDNA | c.7588G>T |
Protein | p.G2530C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184 | chr3:g.142457671C>A | c.7588G>T | p.G2530C | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142457671C>A | c.7588G>T | p.G2530C | RefSeq | GRCh38/hg38 |
NM_001184.4 | chr3:g.142457671C>A | c.7588G>T | p.G2530C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|