BARD1 Y180fs
Gene Variant Detail

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Gene BARD1
Variant Y180fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions BARD1 Y180fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 180 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). Y180fs has not been biochemically characterized however, due to the effects of other truncation mutations downstream of Y180 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 Y180fs

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Transcript NM_000465.4
gDNA chr2:g.(214781336_214781337)
cDNA c.(538_537)
Protein p.Y180fs
Source Database RefSeq
Genome Build 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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