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Gene | BARD1 |
Variant | K540N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 K540N lies within degenerate ANK repeat 4 of the Bard1 protein (UniProt.org). K540N 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 K540N |
Transcript | NM_000465.4 |
gDNA | chr2:g.214752504T>G |
cDNA | c.1620A>C |
Protein | p.K540N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047445350.1 | chr2:g.214752504T>G | c.1620A>C | p.K540N | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214752504T>G | c.1620A>C | p.K540N | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214752504T>G | c.1620A>C | p.K540N | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214752504T>G | c.1620A>C | p.K540N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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