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Gene | FANCA |
Variant | R1117G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA R1117G does not lie within any known functional domains of the Fanca protein (UniProt.org). R1117G confers a loss of function the Fanca protein as demonstrated by defective nuclear accumulation, sensitization of cells to mitomycin C-induced cell death in culture (PMID: 10210316), reduced ability to activate the downstream DNA damage repair endonuclease Fen1 in an in vitro assay (PMID: 24349332), and defective DNA double-strand break repair due to impaired ability to catalyze single-strand annealing and strand exchange activity in cultured cells (PMID: 30057198). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA R1117G |
Transcript | NM_000135.4 |
gDNA | chr16:g.89746890T>C |
cDNA | c.3349A>G |
Protein | p.R1117G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001286167.2 | chr16:g.89746890T>C | c.3349A>G | p.R1117G | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89746890T>C | c.3349A>G | p.R1117G | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89746890T>C | c.3349A>G | p.R1117G | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89746890T>C | c.3349A>G | p.R1117G | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89746890T>C | c.3349A>G | p.R1117G | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89746890T>C | c.3349A>G | p.R1117G | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89746890T>C | c.3349A>G | p.R1117G | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89746890T>C | c.3349A>G | p.R1117G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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