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Gene | FANCA |
Variant | Y510C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA Y510C does not lie within any known functional domains of the Fanca protein (UniProt.org). Y510C leads to defective nuclear localization of Fanca and results in a loss of Fanca interaction with the Fancb/Fancl complex and decreased binding to Fancg in cell culture (PMID: 16720839). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA Y510C |
Transcript | NM_000135.4 |
gDNA | chr16:g.89783044T>C |
cDNA | c.1529A>G |
Protein | p.Y510C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023044 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89783044T>C | c.1529A>G | p.Y510C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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