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Gene | BARD1 |
Variant | S761N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 S761N lies within BRCT domain 2 of the Bard1 protein (UniProt.org). The functional effect of S761N is conflicting, as it demonstrates homology-directed DNA repair activity similar to wild-type Bard1, but also results in a loss of growth inhibition and apoptosis in cell culture (PMID: 17848578, PMID: 16061562), reduced association with Ola1 in an in vitro assay (PMID: 29858377), decreased homology-directed DNA repair activity (PMID: 30925164), and does not bind to or stabilize Nfkb1 p50 in cell culture (PMID: 33024116), and therefore, its effect on Bard1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 S761N |
Transcript | NM_000465.4 |
gDNA | chr2:g.214728728C>T |
cDNA | c.2282G>A |
Protein | p.S761N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017004613.1 | chr2:g.214728827_214728828delTCinsAA | c.2281_2282delTCinsAA | p.S761N | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214728728C>T | c.2282G>A | p.S761N | RefSeq | GRCh38/hg38 |
XM_017004613.2 | chr2:g.214728827_214728828delTCinsAA | c.2281_2282delTCinsAA | p.S761N | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214728728C>T | c.2282G>A | p.S761N | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214728728C>T | c.2282G>A | p.S761N | RefSeq | GRCh38/hg38 |
XM_017004613 | chr2:g.214728827_214728828delGAinsTT | c.2281_2282delTCinsAA | p.S761N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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