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| Gene | FANCL |
| Variant | G317S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FANCL G317S lies within the RING-type zinc finger domain of the Fancl protein (UniProt.org). G317S has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
FANCL mutant FANCL G317S |
| Transcript | NM_018062.4 |
| gDNA | chr2:g.58161593C>T |
| cDNA | c.949G>A |
| Protein | p.G317S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005264395 | chr2:g.58161593C>T | c.949G>A | p.G317S | RefSeq | GRCh38/hg38 |
| NM_018062.4 | chr2:g.58161593C>T | c.949G>A | p.G317S | RefSeq | GRCh38/hg38 |
| NM_018062.3 | chr2:g.58161593C>T | c.949G>A | p.G317S | RefSeq | GRCh38/hg38 |
| XM_005264395.4 | chr2:g.58161593C>T | c.949G>A | p.G317S | RefSeq | GRCh38/hg38 |
| XM_005264395.5 | chr2:g.58161593C>T | c.949G>A | p.G317S | RefSeq | GRCh38/hg38 |
| NM_018062 | chr2:g.58161593C>T | c.949G>A | p.G317S | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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