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 | E2378V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATR E2378V lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). E2378V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATR mutant ATR E2378V |
| Transcript | NM_001184.4 |
| gDNA | chr3:g.142461999T>A |
| cDNA | c.7133A>T |
| Protein | p.E2378V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001184.3 | chr3:g.142461999T>A | c.7133A>T | p.E2378V | RefSeq | GRCh38/hg38 |
| NM_001184.4 | chr3:g.142461999T>A | c.7133A>T | p.E2378V | RefSeq | GRCh38/hg38 |
| NM_001184 | chr3:g.142461999T>A | c.7133A>T | p.E2378V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|