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Gene | FANCA |
Variant | L1256Hfs*11 |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA L1256Hfs*11 indicates a shift in the reading frame starting at amino acid 1256 and terminating 11 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). L1256Hfs*11 confers a loss of function to the Fanca protein as indicated by a loss of Fanca protein expression and both decreased Fancd2 ubiquitination and nuclear foci (PMID: 33172906). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA L1256Hfs*11 |
Transcript | NM_000135.4 |
gDNA | chr16:g.89740866_89740867insTG |
cDNA | c.3766_3767insAC |
Protein | p.L1256Hfs*11 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005256294.4 | chr16:g.89740866_89740867insTG | c.3766_3767insAC | p.L1256Hfs*11 | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89740866_89740867insTG | c.3766_3767insAC | p.L1256Hfs*11 | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89740866_89740867insTG | c.3766_3767insAC | p.L1256Hfs*11 | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89740866_89740867insTG | c.3766_3767insAC | p.L1256Hfs*11 | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89740866_89740867insTG | c.3766_3767insAC | p.L1256Hfs*11 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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