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Gene FANCA
Variant F1135del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions FANCA F1135del results in the deletion of an amino acid of the Fanca protein at amino acid 1135 (UniProt.org). F1135del confers a loss of function to the Fanca protein as demonstrated by decreased interaction with Fancc 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 F1135del

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Transcript NM_000135.4
gDNA chr16:g.89746838_89746840delAAG
cDNA c.3403_3405delTTC
Protein p.F1135delF
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522945.2 chr16:g.89745052_89745054delTCC c.3403_3405delGAG p.E1135delE RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89746838_89746840delAAG c.3403_3405delTTC p.F1135delF RefSeq GRCh38/hg38
NM_000135 chr16:g.89746838_89746840delAAG c.3403_3405delTTC p.F1135delF RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89746838_89746840delAAG c.3403_3405delTTC p.F1135delF RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89746838_89746840delAAG c.3403_3405delTTC p.F1135delF RefSeq GRCh38/hg38
NM_001286167 chr16:g.89746838_89746840delAAG c.3403_3405delTTC p.F1135delF RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89745052_89745054delTCC c.3403_3405delGAG p.E1135delE RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89746838_89746840delAAG c.3403_3405delTTC p.F1135delF RefSeq GRCh38/hg38
XM_011522945 chr16:g.89745052_89745054delTCC c.3403_3405delGAG p.E1135delE RefSeq GRCh38/hg38
XM_005256294 chr16:g.89746838_89746840delAAG c.3403_3405delTTC p.F1135delF RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89746838_89746840delAAG c.3403_3405delTTC p.F1135delF RefSeq GRCh38/hg38
XM_017023044 chr16:g.89745052_89745054delTCC c.3403_3405delGAG p.E1135delE RefSeq GRCh38/hg38

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Sorting

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