BARD1 L44R
Gene Variant Detail

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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

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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
XM_047445350.1 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
XM_017004613.1 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_017004613 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
NM_001282548 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
NM_001282549 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
XM_017004613.2 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_001282543 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_000465 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
XM_017004614 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_001282545.1 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_001282543.2 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
BARD1 L44R loss of function Olaparib