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Gene | BARD1 |
Variant | C557S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 C557S lies within the flexible linker region of the Bard1 protein (UniProt.org). C557S demonstrates homology-directed DNA repair activity similar to wild-type Bard1 (PMID: 17848578), binds to and stabilizes Nfkb1 p50 similarly to wild-type (PMID: 33024116), however, also results in a loss of growth inhibition and apoptosis in cell culture (PMID: 16061562), and therefore, its effect on Bard1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 C557S |
Transcript | NM_000465.4 |
gDNA | chr2:g.214752455A>T |
cDNA | c.1669T>A |
Protein | p.C557S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047445350.1 | chr2:g.214752455A>T | c.1669T>A | p.C557S | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214752455A>T | c.1669T>A | p.C557S | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214752455A>T | c.1669T>A | p.C557S | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214752455A>T | c.1669T>A | p.C557S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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