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Gene | FANCA |
Variant | Q1307Sfs*6 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA Q1307Sfs*6 indicates a shift in the reading frame starting at amino acid 1307 and terminating 6 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Q1307Sfs*6 has been identified in the scientific literature (PMID: 36181052), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA Q1307Sfs*6 |
Transcript | NM_000135.4 |
gDNA | chr16:g.89740012dupA |
cDNA | c.3918dupT |
Protein | p.Q1307Sfs*6 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.4 | chr16:g.89740012dupA | c.3918dupT | p.Q1307Sfs*6 | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89740012dupA | c.3918dupT | p.Q1307Sfs*6 | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89740012dupA | c.3918dupT | p.Q1307Sfs*6 | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89740012dupA | c.3918dupT | p.Q1307Sfs*6 | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89740012dupA | c.3918dupT | p.Q1307Sfs*6 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FANCA Q1307Sfs*6 | hepatocellular carcinoma | predicted - sensitive | Cisplatin + Olaparib | Case Reports/Case Series | Actionable | In a clinical case study, Lynparza (olaparib) and Platinol (cisplatin) combination treatment resulted in decreased tumor marker level within 1 month and disease stabilization with a progression-free survival of 12 months in a patient with hepatocellular carcinoma harboring FANCA Q1307Sfs*6 (PMID: 36181052). | 36181052 |