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 | K140N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 K140N lies within the Rad51-interacting domain of the Bard1 protein (PMID: 28976962). K140N results in decreased binding to Rad51 and failure to carry out Rad51-mediated DNA strand invasion (PMID: 28976962), but displays homology-directed DNA repair activity similar to wild-type Bard1 in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 K140N |
Transcript | NM_000465.4 |
gDNA | chr2:g.214781454C>G |
cDNA | c.420G>C |
Protein | p.K140N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.3 | chr2:g.214781454C>G | c.420G>C | p.K140N | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214781454C>G | c.420G>C | p.K140N | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214781454C>G | c.420G>C | p.K140N | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214781454C>G | c.420G>C | p.K140N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|