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Gene FANCA
Variant F1263del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions FANCA F1263del results in the deletion of an amino acid of the Fanca protein at amino acid 1263 (UniProt.org). F1263del results in decreased interaction with Fancc and Fancf (PMID: 12444097), failure to restore Fancd2 monoubiquitination and confer resistance to mitomycin C-induced cell death and G2/M cell cycle block in FANCA-null cells (PMID: 12444097, PMID: 31586946), and defective DNA double-strand break repair due to impaired ability to catalyze single-strand annealing and strand exchange activity in cultured cells (PMID: 30057198).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA F1263del

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Transcript NM_000135.4
gDNA chr16:g.89740849_89740851delGAA
cDNA c.3788_3790delTCT
Protein p.F1263delF
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023044 chr16:g.89740010_89740012delAAA c.3787_3789delTTT p.F1263delF RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89740010_89740012delAAA c.3787_3789delTTT p.F1263delF RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89740849_89740851delGAA c.3788_3790delTCT p.F1263delF RefSeq GRCh38/hg38
NM_000135 chr16:g.89740849_89740851delGAA c.3788_3790delTCT p.F1263delF RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89740849_89740851delGAA c.3788_3790delTCT p.F1263delF RefSeq GRCh38/hg38
XM_005256294 chr16:g.89740849_89740851delGAA c.3788_3790delTCT p.F1263delF RefSeq GRCh38/hg38
NM_001286167 chr16:g.89740849_89740851delGAA c.3788_3790delTCT p.F1263delF RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89740849_89740851delGAA c.3788_3790delTCT p.F1263delF RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89740849_89740851delGAA c.3788_3790delTCT p.F1263delF RefSeq GRCh38/hg38
XM_011522945 chr16:g.89740010_89740012delAAA c.3787_3789delTTT p.F1263delF RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89740010_89740012delAAA c.3787_3789delTTT p.F1263delF RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89740849_89740851delGAA c.3788_3790delTCT p.F1263delF RefSeq GRCh38/hg38

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