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 | V154fs |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | BARD1 V154fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 154 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). V154fs results in a loss of Bard1 protein expression and decreased homology-directed DNA repair activity in cell culture (PMID: 30925164). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 V154fs |
Transcript | NM_000465.4 |
gDNA | chr2:g.(214781414_214781415) |
cDNA | c.(460_459) |
Protein | p.V154fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.4 | chr2:g.(214781414_214781415) | c.(460_459) | p.V154fs | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.(214781414_214781415) | c.(460_459) | p.V154fs | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.(214781414_214781415) | c.(460_459) | p.V154fs | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.(214781414_214781415) | c.(460_459) | p.V154fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BARD1 V154fs | loss of function | Olaparib |