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Gene | FANCA |
Variant | L1083del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA L1083del results in the deletion of an amino acid of the Fanca protein at amino acid 1083 (UniProt.org). L1083del confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA L1083del |
Transcript | NM_000135.4 |
gDNA | chr16:g.89748763_89748765delGGA |
cDNA | c.3248_3250delTCC |
Protein | p.L1083delL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011522947 | chr16:g.89738875_89738877delACG | c.3247_3249delGTC | p.V1083delV | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89748763_89748765delGGA | c.3248_3250delTCC | p.L1083delL | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89746861_89746863delCAG | c.3247_3249delCTG | p.L1083delL | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89748763_89748765delGGA | c.3248_3250delTCC | p.L1083delL | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89748763_89748765delGGA | c.3248_3250delTCC | p.L1083delL | RefSeq | GRCh38/hg38 |
XM_011522946.3 | chr16:g.89738875_89738877delACG | c.3247_3249delGTC | p.V1083delV | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89746861_89746863delCAG | c.3247_3249delCTG | p.L1083delL | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89746861_89746863delCAG | c.3247_3249delCTG | p.L1083delL | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89748763_89748765delGGA | c.3248_3250delTCC | p.L1083delL | RefSeq | GRCh38/hg38 |
XM_011522946 | chr16:g.89738875_89738877delACG | c.3247_3249delGTC | p.V1083delV | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89748763_89748765delGGA | c.3248_3250delTCC | p.L1083delL | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89748763_89748765delGGA | c.3248_3250delTCC | p.L1083delL | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89746861_89746863delCAG | c.3247_3249delCTG | p.L1083delL | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89748763_89748765delGGA | c.3248_3250delTCC | p.L1083delL | RefSeq | GRCh38/hg38 |
XM_024450189.1 | chr16:g.89738875_89738877delACG | c.3247_3249delGTC | p.V1083delV | RefSeq | GRCh38/hg38 |
XM_011522947.2 | chr16:g.89738875_89738877delACG | c.3247_3249delGTC | p.V1083delV | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89748763_89748765delGGA | c.3248_3250delTCC | p.L1083delL | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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