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Gene | FANCA |
Variant | F1262L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA F1262L does not lie within any known functional domains of the Fanca protein (UniProt.org). F1262L demonstrates Fancc binding, Fancd2 monoubiquitination, and complementation of cellular sensitivity to mitomycin C similar to wild-type Fanca protein in culture (PMID: 12444097), however, results in impaired Fanca nuclear localization in cultured cells (PMID: 32002546), and therefore, its effect on Fanca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA F1262L |
Transcript | NM_000135.4 |
gDNA | chr16:g.89740848A>G |
cDNA | c.3784T>C |
Protein | p.F1262L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005256294 | chr16:g.89740848A>G | c.3784T>C | p.F1262L | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89740848A>G | c.3784T>C | p.F1262L | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89740848A>G | c.3784T>C | p.F1262L | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89740848A>G | c.3784T>C | p.F1262L | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89740848A>G | c.3784T>C | p.F1262L | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89740848A>G | c.3784T>C | p.F1262L | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89740848A>G | c.3784T>C | p.F1262L | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89740848A>G | c.3784T>C | p.F1262L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FANCA F1262L | unknown |