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Gene | BARD1 |
Variant | C78S |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BARD1 C78S lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C78S demonstrates nucleosome binding and ubiquitination of histone H2A similar to wild-type Bard1 in in vitro assays, and results in transcriptional repression of the estrogen metabolism genes Cyp1a1 and Cyp3a4 similar to wild-type Bard1 in cultured cells (PMID: 29367421), and therefore, is predicted to have no effect on Bard1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 C78S |
Transcript | NM_000465.4 |
gDNA | chr2:g.214792429A>T |
cDNA | c.232T>A |
Protein | p.C78S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282549.1 | chr2:g.214792429A>T | c.232T>A | p.C78S | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214792429A>T | c.232T>A | p.C78S | RefSeq | GRCh38/hg38 |
NM_001282549.2 | chr2:g.214792429A>T | c.232T>A | p.C78S | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214792429A>T | c.232T>A | p.C78S | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214792429A>T | c.232T>A | p.C78S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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