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