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Gene | BARD1 |
Variant | A518V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 A518V lies within ANK repeat 3 of the Bard1 protein (UniProt.org). A518V 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 A518V |
Transcript | NM_000465.4 |
gDNA | chr2:g.214767497G>A |
cDNA | c.1553C>T |
Protein | p.A518V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047445350.1 | chr2:g.214767497G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
XM_017004613.2 | chr2:g.214767596G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214767497G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214767497G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
XM_017004614.1 | chr2:g.214767596G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
XM_017004613.1 | chr2:g.214767596G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
XM_017004614.2 | chr2:g.214767596G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214767497G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
XM_017004614 | chr2:g.214767596G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
XM_017004613 | chr2:g.214767596G>A | c.1553C>T | p.A518V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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