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Gene | FANCA |
Variant | E966K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA E966K does not lie within any known functional domains of the Fanca protein (UniProt.org). E966K results in nuclear localization similar to wild-type Fanca in culture (PMID: 16397136), but has not been fully biochemically characterized and therefore, its effect on Fanca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA E966K |
Transcript | NM_000135.4 |
gDNA | chr16:g.89758662C>T |
cDNA | c.2896G>A |
Protein | p.E966K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001286167.2 | chr16:g.89758662C>T | c.2896G>A | p.E966K | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89758662C>T | c.2896G>A | p.E966K | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89758662C>T | c.2896G>A | p.E966K | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89758662C>T | c.2896G>A | p.E966K | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89758662C>T | c.2896G>A | p.E966K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FANCA E966K | unknown |