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Gene | FANCA |
Variant | H1417D |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FANCA H1417D does not lie within any known functional domains of the Fanca protein (UniProt.org). H1417D demonstrates nuclear localization, Fancc binding, Fancd2 monoubiquitination, and complementation of cellular sensitivity to mitomycin C similar to wild-type Fanca in culture (PMID: 12444097), and therefore, is predicted to have no effect on Fanca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA H1417D |
Transcript | NM_000135.4 |
gDNA | chr16:g.89738893G>C |
cDNA | c.4249C>G |
Protein | p.H1417D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.4 | chr16:g.89738893G>C | c.4249C>G | p.H1417D | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89738893G>C | c.4249C>G | p.H1417D | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89738893G>C | c.4249C>G | p.H1417D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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