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| Gene | FANCA |
| Variant | C625S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FANCA C625S does not lie within any known functional domains of the Fanca protein (UniProt.org). C625S has been identified in the scientific literature (PMID: 23021409, PMID: 21273304, PMID: 28717660), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FANCA mutant FANCA C625S |
| Transcript | NM_000135.4 |
| gDNA | chr16:g.89775769A>T |
| cDNA | c.1873T>A |
| Protein | p.C625S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011522948 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| NM_001286167 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| NM_000135.4 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| NM_000135.3 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| NM_001286167.3 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| XM_011522945.2 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| XM_005256294.4 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| XM_011522945 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| XM_005256294 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| XM_017023044 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| XM_017023045.1 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| XM_017023045 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| NM_001286167.2 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| NM_000135 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| XM_017023044.2 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| XM_011522948.2 | chr16:g.89775769A>T | c.1873T>A | p.C625S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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