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@jax.org
Gene | BARD1 |
Variant | C74Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 C74Y lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C74Y has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 C74Y |
Transcript | NM_000465.4 |
gDNA | chr2:g.214792440C>T |
cDNA | c.221G>A |
Protein | p.C74Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.4 | chr2:g.214792440C>T | c.221G>A | p.C74Y | RefSeq | GRCh38/hg38 |
NM_001282549.2 | chr2:g.214792440C>T | c.221G>A | p.C74Y | RefSeq | GRCh38/hg38 |
NM_001282549 | chr2:g.214792440C>T | c.221G>A | p.C74Y | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214792440C>T | c.221G>A | p.C74Y | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214792440C>T | c.221G>A | p.C74Y | RefSeq | GRCh38/hg38 |
NM_001282549.1 | chr2:g.214792440C>T | c.221G>A | p.C74Y | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214792440C>T | c.221G>A | p.C74Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|