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Gene FANCA
Variant W1174del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions FANCA W1174del results in the deletion of an amino acid of the Fanca protein at amino acid 1174 (UniProt.org). W1174del confers a loss of function to the Fanca protein as demonstrated by decreased Fanca phosphorylation, reduced 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 W1174del

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Transcript NM_000135.4
gDNA chr16:g.89745067_89745069delCAC
cDNA c.3520_3522delTGG
Protein p.W1174delW
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000135 chr16:g.89745067_89745069delCAC c.3520_3522delTGG p.W1174delW RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89745067_89745069delCAC c.3520_3522delTGG p.W1174delW RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89742916_89742918delAGG c.3520_3522delTCC p.S1174delS RefSeq GRCh38/hg38
XM_011522945 chr16:g.89742916_89742918delAGG c.3520_3522delTCC p.S1174delS RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89745067_89745069delCAC c.3520_3522delTGG p.W1174delW RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89745067_89745069delCAC c.3520_3522delTGG p.W1174delW RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89742916_89742918delAGG c.3520_3522delTCC p.S1174delS RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89745067_89745069delCAC c.3520_3522delTGG p.W1174delW RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89745067_89745069delCAC c.3520_3522delTGG p.W1174delW RefSeq GRCh38/hg38
NM_001286167 chr16:g.89745067_89745069delCAC c.3520_3522delTGG p.W1174delW RefSeq GRCh38/hg38
XM_017023044 chr16:g.89742916_89742918delAGG c.3520_3522delTCC p.S1174delS RefSeq GRCh38/hg38
XM_005256294 chr16:g.89745067_89745069delCAC c.3520_3522delTGG p.W1174delW RefSeq GRCh38/hg38

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