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Gene | BARD1 |
Variant | V183L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 V183L lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). V183L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 V183L |
Transcript | NM_000465.4 |
gDNA | chr2:g.214781327C>G |
cDNA | c.547G>C |
Protein | p.V183L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.4 | chr2:g.214781327C>G | c.547G>C | p.V183L | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214781327C>G | c.547G>C | p.V183L | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214781327C>G | c.547G>C | p.V183L | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214781327C>G | c.547G>C | p.V183L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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