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