BARD1 P24S
Gene Variant Detail

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Gene BARD1
Variant P24S
Impact List missense
Protein Effect no effect
Gene Variant Descriptions BARD1 P24S does not lie within any known functional domains of the Bard1 protein (UniProt.org). P24S demonstrates similar homology-directed DNA repair activity (PMID: 39387837), cell growth and apoptosis (PMID: 16061562), genome stability, ubiquitin-conjugation, Brca1 and Rad51 foci formation, and DNA damage response as wild-type Bard1 in cultured cells, and is not transforming in Tp53-null cells in a mouse model (PMID: 33623049).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 P24S

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Transcript NM_000465.4
gDNA chr2:g.214809500G>A
cDNA c.70C>T
Protein p.P24S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017004614 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
XM_017004614.1 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282543.1 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
XM_017004613 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282548.1 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282549.1 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
XM_017004614.2 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282543 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282548.2 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282549.2 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
XM_017004613.2 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_000465 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282543.2 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282545.2 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282545.1 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282548 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282545 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
NM_001282549 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38
XM_017004613.1 chr2:g.214809500G>A c.70C>T p.P24S RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References