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Gene | FANCA |
Variant | L817P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA L817P does not lie within any known functional domains of the Fanca protein (UniProt.org). L817P confers a loss of function to Fanca, as indicated by cytoplasmic and nuclear 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 L817P |
Transcript | NM_000135.4 |
gDNA | chr16:g.89769891A>G |
cDNA | c.2450T>C |
Protein | p.L817P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.3 | chr16:g.89769891A>G | c.2450T>C | p.L817P | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89769891A>G | c.2450T>C | p.L817P | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89769891A>G | c.2450T>C | p.L817P | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89769891A>G | c.2450T>C | p.L817P | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89769891A>G | c.2450T>C | p.L817P | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89769891A>G | c.2450T>C | p.L817P | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89769891A>G | c.2450T>C | p.L817P | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89769891A>G | c.2450T>C | p.L817P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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