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Gene | FANCA |
Variant | D953E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA D953E does not lie within any known functional domains of the Fanca protein (UniProt.org). D953E results in nuclear localization and Fanca expression similar to wild-type Fanca but does not fully complement survival after mitomycin C treatment in FANCA-deficient cells in culture (PMID: 29098742), and therefore, its effect on Fanca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA D953E |
Transcript | NM_000135.4 |
gDNA | chr16:g.89758699G>C |
cDNA | c.2859C>G |
Protein | p.D953E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.3 | chr16:g.89758699G>C | c.2859C>G | p.D953E | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89758699G>C | c.2859C>G | p.D953E | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89758699G>C | c.2859C>G | p.D953E | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89758699G>C | c.2859C>G | p.D953E | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89758699G>C | c.2859C>G | p.D953E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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