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Gene | FANCA |
Variant | W957G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA W957G does not lie within any known functional domains of the Fanca protein (UniProt.org). W957G confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA W957G |
Transcript | NM_000135.4 |
gDNA | chr16:g.89758689A>C |
cDNA | c.2869T>G |
Protein | p.W957G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005256294 | chr16:g.89758689A>C | c.2869T>G | p.W957G | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89758689A>C | c.2869T>G | p.W957G | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89758689A>C | c.2869T>G | p.W957G | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89758689A>C | c.2869T>G | p.W957G | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89758689A>C | c.2869T>G | p.W957G | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89758689A>C | c.2869T>G | p.W957G | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89758689A>C | c.2869T>G | p.W957G | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89758689A>C | c.2869T>G | p.W957G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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