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