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Gene FANCA
Variant P1324L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCA P1324L does not lie within any known functional domains of the Fanca protein (UniProt.org). P1324L confers a loss of function to Fanca, as indicated by cytoplasmic localization, decreased interaction with Fancc and Fancf, decreased Fancd2 ubiquination, and failure to fully complement survival after MMC treatment in FANCA-deficient cells in culture (PMID: 12444097).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA P1324L

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Transcript NM_000135.4
gDNA chr16:g.89739517G>A
cDNA c.3971C>T
Protein p.P1324L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.3 chr16:g.89739517G>A c.3971C>T p.P1324L RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89739517G>A c.3971C>T p.P1324L RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89739517G>A c.3971C>T p.P1324L RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89739517G>A c.3971C>T p.P1324L RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89739517G>A c.3971C>T p.P1324L RefSeq GRCh38/hg38

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

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