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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

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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

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