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Gene | FANCL |
Variant | C307G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL C307G lies within the RING-type zinc finger domain of the Fnacl protein (UniProt.org). C307G has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL C307G |
Transcript | NM_018062.4 |
gDNA | chr2:g.58161623A>C |
cDNA | c.919T>G |
Protein | p.C307G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264395.5 | chr2:g.58161623A>C | c.919T>G | p.C307G | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58161623A>C | c.919T>G | p.C307G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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