BARD1 E287fs
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene BARD1
Variant E287fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions BARD1 E287fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 287 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). E287fs results in decreased Bard1 expression and homology-directed repair activity, increased double-strand DNA breaks, and increased sensitivity to olaparib and cisplatin in cultured cells (PMID: 37688570).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 E287fs

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.

Transcript NM_000465.4
gDNA chr2:g.(214781015_214781016)
cDNA c.(859_858)
Protein p.E287fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.(214781015_214781016) c.(859_858) p.E287fs RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.(214781015_214781016) c.(859_858) p.E287fs 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BARD1 E287fs neuroblastoma sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, Platinol (cisplatin) treatment inhibited viability of a neuroblastoma cell line expressing BARD1 E287fs culture (PMID: 37688570). 37688570
BARD1 E287fs neuroblastoma predicted - sensitive Olaparib Preclinical - Cell line xenograft Actionable In a preclinical study, Lynparza (olaparib) treatment inhibited viability of a neuroblastoma cell line expressing BARD1 E287fs in culture but did not delay tumor growth in a cell line xenograft model (PMID: 37688570). 37688570
BARD1 E287fs neuroblastoma sensitive Cisplatin + Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with the combination of Lynparza (Olaparib) and Platinol (cisplatin) treatment inhibited viability of a neuroblastoma cell line expressing BARD1 E287fs culture (PMID: 37688570). 37688570