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Gene | BARD1 |
Variant | L44R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BARD1 L44R lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). L44R confers a loss of function on the Bard1 protein, as demonstrated by loss of homology-directed DNA repair activity and loss of Brca1 binding in cell culture (PMID: 11773071, PMID: 30925164). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 L44R |
Transcript | NM_000465.4 |
gDNA | chr2:g.214809439A>C |
cDNA | c.131T>G |
Protein | p.L44R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282548 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282543.1 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
XM_017004613 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282545 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
XM_017004613.1 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282548.1 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282545.2 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
XM_017004614.1 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282548.2 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282549.2 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282543 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
XM_017004614.2 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282549 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
XM_017004614 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
XM_017004613.2 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282543.2 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282545.1 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
NM_001282549.1 | chr2:g.214809439A>C | c.131T>G | p.L44R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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