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 | R406* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BARD1 R406* results in a premature truncation of the Bard1 protein at amino acid 406 of 777 (UniProt.org). R406* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of R406 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 R406* |
Transcript | NM_000465.4 |
gDNA | chr2:g.214780658G>A |
cDNA | c.1216C>T |
Protein | p.R406* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.4 | chr2:g.214780658G>A | c.1216C>T | p.R406* | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214780658G>A | c.1216C>T | p.R406* | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214780658G>A | c.1216C>T | p.R406* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BARD1 R406* | loss of function - predicted | Olaparib |