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Gene | BARD1 |
Variant | Q164* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BARD1 Q164* results in a premature truncation of the Bard1 protein at amino acid 164 of 777 (UniProt.org). Q164* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of Q164 (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 Q164* |
Transcript | NM_000465.4 |
gDNA | chr2:g.214781384G>A |
cDNA | c.490C>T |
Protein | p.Q164* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |