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Gene FANCA
Variant W183A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCA W183A lies within the hydrogen peroxide binding pocket of the Fanca protein (PMID: 11161829). W183A retains the ability to Fancg, but leads to an inability of Fanca to complement cellular sensitivity to mitomycin C in culture (PMID: 11161829).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA W183A

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Transcript NM_000135.4
gDNA chr16:g.89808342_89808343delTGinsGC
cDNA c.547_548delTGinsGC
Protein p.W183A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001018112 chr16:g.89808342_89808343delCAinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
NM_001286167 chr16:g.89808342_89808343delCAinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
NM_001018112.3 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
NM_001018112.2 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_017023044 chr16:g.89808342_89808343delCAinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_011522948 chr16:g.89808342_89808343delCAinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_017023046 chr16:g.89808342_89808343delCAinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_005256294 chr16:g.89808342_89808343delCAinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_017023046.1 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
NM_000135 chr16:g.89808342_89808343delCAinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89808342_89808343delTGinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_011522945 chr16:g.89808342_89808343delCAinsGC c.547_548delTGinsGC p.W183A RefSeq GRCh38/hg38
XM_017023045 chr16:g.89808342_89808343delCAinsGC c.547_548delTGinsGC p.W183A 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