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Gene | FANCA |
Variant | R756C |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCA R756C does not lie within any known functional domains of the Fanca protein (UniProt.org). R756C is associated with weak Fanca expression and nuclear localization, and does not fully complement cell survival after mitomycin C treatment in FANCA-deficient cells in culture (PMID: 29098742), and therefore, is predicted to lead to a loss of Fanca protein function |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA R756C |
Transcript | NM_000135.4 |
gDNA | chr16:g.89770216G>A |
cDNA | c.2266C>T |
Protein | p.R756C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005256294.4 | chr16:g.89770216G>A | c.2266C>T | p.R756C | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89770216G>A | c.2266C>T | p.R756C | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89770216G>A | c.2266C>T | p.R756C | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89770216G>A | c.2266C>T | p.R756C | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89770216G>A | c.2266C>T | p.R756C | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89770216G>A | c.2266C>T | p.R756C | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89770216G>A | c.2266C>T | p.R756C | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89770216G>A | c.2266C>T | p.R756C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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