BARD1 N488S
Gene Variant Detail

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Gene BARD1
Variant N488S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BARD1 N488S lies within ANK repeat 2 of the Bard1 protein (UniProt.org). N488S 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 N488S

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Transcript NM_000465.4
gDNA chr2:g.214767587T>C
cDNA c.1463A>G
Protein p.N488S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017004613 chr2:g.214769263T>C c.1463A>G p.N488S RefSeq GRCh38/hg38
XM_017004614.1 chr2:g.214769263T>C c.1463A>G p.N488S RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214767587T>C c.1463A>G p.N488S RefSeq GRCh38/hg38
XM_017004614.2 chr2:g.214769263T>C c.1463A>G p.N488S RefSeq GRCh38/hg38
NM_000465 chr2:g.214767587T>C c.1463A>G p.N488S RefSeq GRCh38/hg38
XM_017004613.1 chr2:g.214769263T>C c.1463A>G p.N488S RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214767587T>C c.1463A>G p.N488S RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214767587T>C c.1463A>G p.N488S RefSeq GRCh38/hg38
XM_017004613.2 chr2:g.214769263T>C c.1463A>G p.N488S RefSeq GRCh38/hg38
XM_017004614 chr2:g.214769263T>C c.1463A>G p.N488S 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
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Molecular Profile Protein Effect Treatment Approaches
BARD1 N488S unknown