FANCA D1359Y
Gene Variant Detail

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Gene FANCA
Variant D1359Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCA D1359Y does not lie within any known functional domains of the Fanca protein (UniProt.org). D1359Y confers a loss of function to the Fanca protein, as indicated by decreased Fancd2 and Fanci monoubiquitination, reduced Fancd2 foci formation upon MMC treatment in cultured cells (PMID: 28864460), decreased survival upon MMC treatment in FANCA-deficient cells, and decreased interaction with Fancc and Fancf in culture (PMID: 12444097).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA D1359Y

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Transcript NM_000135.4
gDNA chr16:g.89739225C>A
cDNA c.4075G>T
Protein p.D1359Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.2 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89739225C>A c.4075G>T p.D1359Y RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References