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Gene | BARD1 |
Variant | N295S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BARD1 N295S does not lie within any known functional domains of the Bard1 protein (UniProt.org). N295S confers a loss of function on the Bard1 protein as indicated by decreased Tp53 protein stability, loss of growth inhibition and apoptosis in cell culture (PMID: 16061562). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 N295S |
Transcript | NM_000465.4 |
gDNA | chr2:g.214780990T>C |
cDNA | c.884A>G |
Protein | p.N295S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.4 | chr2:g.214780990T>C | c.884A>G | p.N295S | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214780990T>C | c.884A>G | p.N295S | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214780990T>C | c.884A>G | p.N295S | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214780990T>C | c.884A>G | p.N295S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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