Gene Variant Detail

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@jax.org

Gene FANCA
Variant W957G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCA W957G does not lie within any known functional domains of the Fanca protein (UniProt.org). W957G confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA W957G

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_000135.4
gDNA chr16:g.89758689A>C
cDNA c.2869T>G
Protein p.W957G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005256294 chr16:g.89758689A>C c.2869T>G p.W957G RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89758689A>C c.2869T>G p.W957G RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89758689A>C c.2869T>G p.W957G RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89758689A>C c.2869T>G p.W957G RefSeq GRCh38/hg38
NM_000135 chr16:g.89758689A>C c.2869T>G p.W957G RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89758689A>C c.2869T>G p.W957G RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89758689A>C c.2869T>G p.W957G RefSeq GRCh38/hg38
NM_001286167 chr16:g.89758689A>C c.2869T>G p.W957G 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