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Gene | FANCA |
Variant | E1239_R1243del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA E1239_R1243del results in the deletion of five amino acids in the Fanca protein from amino acids 1239 to 1243 (UniProt.org). E1239_R1243del confers a loss of function to the Fanca protein as demonstrated by decreased Fanca phosphorylation, reduced interaction with Fancc and Fancf, 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 E1239_R1243del |
Transcript | NM_000135.4 |
gDNA | chr16:g.89742841_89742855del15 |
cDNA | c.3715_3729del15 |
Protein | p.E1239_R1243delEENIR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.3 | chr16:g.89742841_89742855del15 | c.3715_3729del15 | p.E1239_R1243delEENIR | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89742841_89742855del15 | c.3715_3729del15 | p.E1239_R1243delEENIR | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89742841_89742855del15 | c.3715_3729del15 | p.E1239_R1243delEENIR | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89740070_89740084del15 | c.3715_3729del15 | p.P1239_H1243delPKAFH | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89740070_89740084del15 | c.3715_3729del15 | p.P1239_H1243delPKAFH | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89740070_89740084del15 | c.3715_3729del15 | p.P1239_H1243delPKAFH | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89742841_89742855del15 | c.3715_3729del15 | p.E1239_R1243delEENIR | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89742841_89742855del15 | c.3715_3729del15 | p.E1239_R1243delEENIR | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89740070_89740084del15 | c.3715_3729del15 | p.P1239_H1243delPKAFH | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89742841_89742855del15 | c.3715_3729del15 | p.E1239_R1243delEENIR | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89742841_89742855del15 | c.3715_3729del15 | p.E1239_R1243delEENIR | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89742841_89742855del15 | c.3715_3729del15 | p.E1239_R1243delEENIR | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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