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Gene | BARD1 |
Variant | H686A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 H686A lies within BRCT domain 2 of the Bard1 protein (UniProt.org). H686A results in loss of binding to Nfkb1 p50 in cell culture (PMID: 33024116), but has not been fully biochemically characterized and therefore, its effect on Bard1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 H686A |
Transcript | NM_000465.4 |
gDNA | chr2:g.214728953_214728954delCAinsGC |
cDNA | c.2056_2057delCAinsGC |
Protein | p.H686A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.4 | chr2:g.214728953_214728954delCAinsGC | c.2056_2057delCAinsGC | p.H686A | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214728953_214728954delCAinsGC | c.2056_2057delCAinsGC | p.H686A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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