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Gene BARD1
Variant R731C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BARD1 R731C lies within BRCT domain 2 of the Bard1 protein (UniProt.org). R731C results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 R731C

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Transcript NM_000465.4
gDNA chr2:g.214728819G>A
cDNA c.2191C>T
Protein p.R731C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.214728819G>A c.2191C>T p.R731C RefSeq GRCh38/hg38
NM_000465 chr2:g.214728819G>A c.2191C>T p.R731C RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214728819G>A c.2191C>T p.R731C RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References