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Gene | FANCA |
Variant | Q869_F870del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA Q869_F870del (also reported as F868_Q869del) results in the deletion of two amino acids of the Fanca protein from amino acids 869 to 870 (UniProt.org). Q869_F870del (reported as F868_Q869del) confers a loss of function to the Fanca protein as demonstrated by decreased interaction with Fancc, failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA Q869_F870del |
Transcript | NM_000135.4 |
gDNA | chr16:g.89765058_89765063delGAACTG |
cDNA | c.2606_2611delAGTTCC |
Protein | p.Q869_F870delQF |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.3 | chr16:g.89765058_89765063delGAACTG | c.2606_2611delAGTTCC | p.Q869_F870del | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89765058_89765063delGAACTG | c.2606_2611delAGTTCC | p.Q869_F870del | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89765058_89765063delGAACTG | c.2606_2611delAGTTCC | p.Q869_F870del | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89765058_89765063delGAACTG | c.2606_2611delAGTTCC | p.Q869_F870del | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89765058_89765063delGAACTG | c.2606_2611delAGTTCC | p.Q869_F870del | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89765058_89765063delGAACTG | c.2606_2611delAGTTCC | p.Q869_F870delQF | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89765058_89765063delGAACTG | c.2606_2611delAGTTCC | p.Q869_F870del | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89765058_89765063delGAACTG | c.2606_2611delAGTTCC | p.Q869_F870delQF | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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