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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

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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

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References