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 | BARD1 |
| Variant | A638T |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BARD1 A638T lies within BRCT domain 1 of the Bard1 protein (UniProt.org). A638T has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
BARD1 mutant BARD1 A638T |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214730500C>T |
| cDNA | c.1912G>A |
| Protein | p.A638T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000465.3 | chr2:g.214730500C>T | c.1912G>A | p.A638T | RefSeq | GRCh38/hg38 |
| NM_000465.4 | chr2:g.214730500C>T | c.1912G>A | p.A638T | RefSeq | GRCh38/hg38 |
| XM_047445350.1 | chr2:g.214739113C>T | c.1912G>A | p.A638T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|