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Gene FANCA
Variant R880Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA R880Q does not lie within any known functional domains of the Fanca protein (UniProt.org). The functional effect of R880Q is conflicting, as it results in increased cytoplasmic localization and decreased ability to complement survival after mitomycin C (MMC) treatment in culture in one study (PMID: 16397136), but demonstrates the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in another study, and leads to increased binding to Hsp90 and Hsp70 and moderately decreased Fancd2 ubiquitylation in culture (PMID: 28215707).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA R880Q

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Transcript NM_000135.4
gDNA chr16:g.89765029C>T
cDNA c.2639G>A
Protein p.R880Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.3 chr16:g.89765029C>T c.2639G>A p.R880Q RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89765029C>T c.2639G>A p.R880Q RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89765029C>T c.2639G>A p.R880Q RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89765029C>T c.2639G>A p.R880Q RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89765029C>T c.2639G>A p.R880Q RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89765029C>T c.2639G>A p.R880Q RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89765029C>T c.2639G>A p.R880Q RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89765029C>T c.2639G>A p.R880Q 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 )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References