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Gene | FANCA |
Variant | W1302R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA W1302R does not lie within any known functional domains of the Fanca protein (UniProt.org). W1302R confers a loss of function to the Fanca protein as demonstrated by impaired nuclear localization (PMID: 12444097, PMID: 32002546), failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA W1302R |
Transcript | NM_000135.4 |
gDNA | chr16:g.89740024A>T |
cDNA | c.3904T>A |
Protein | p.W1302R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001286167.3 | chr16:g.89740024A>T | c.3904T>A | p.W1302R | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89740024A>T | c.3904T>A | p.W1302R | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89740024A>T | c.3904T>A | p.W1302R | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89740024A>T | c.3904T>A | p.W1302R | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89740024A>T | c.3904T>A | p.W1302R | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89740024A>T | c.3904T>A | p.W1302R | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89740024A>T | c.3904T>A | p.W1302R | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89740024A>T | c.3904T>A | p.W1302R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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