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