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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 2024). |
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 |
---|---|---|---|---|---|
NM_018062 | 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 | 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_018062.4 | chr2:g.58161593C>T | c.949G>A | p.G317S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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