BARD1 L480S
Gene Variant Detail

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Gene BARD1
Variant L480S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BARD1 L480S lies within ANK repeat 2 of the Bard1 protein (UniProt.org). L480S results in decreased homology-directed DNA repair activity in cell culture (PMID: 30925164), and therefore, is predicted to lead to a loss of Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 L480S

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Transcript NM_000465.4
gDNA chr2:g.214767611A>G
cDNA c.1439T>C
Protein p.L480S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017004613.1 chr2:g.214769287_214769288delCTinsAG c.1438_1439delCTinsAG p.L480S RefSeq GRCh38/hg38
XM_017004613 chr2:g.214769287_214769288delAGinsCT c.1438_1439delCTinsAG p.L480S RefSeq GRCh38/hg38
XM_017004614.1 chr2:g.214769287_214769288delCTinsAG c.1438_1439delCTinsAG p.L480S RefSeq GRCh38/hg38
XM_017004614.2 chr2:g.214769287_214769288delCTinsAG c.1438_1439delCTinsAG p.L480S RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214767611A>G c.1439T>C p.L480S RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214767611A>G c.1439T>C p.L480S RefSeq GRCh38/hg38
XM_017004614 chr2:g.214769287_214769288delAGinsCT c.1438_1439delCTinsAG p.L480S RefSeq GRCh38/hg38
NM_000465 chr2:g.214767611A>G c.1439T>C p.L480S RefSeq GRCh38/hg38
XM_017004613.2 chr2:g.214769287_214769288delCTinsAG c.1438_1439delCTinsAG p.L480S RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214767611A>G c.1439T>C p.L480S RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries