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