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| Gene | VHL |
| Variant | L201P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | VHL L201P does not lie within any known functional domains of the Vhl protein (UniProt.org). L201P has been identified in the scientific literature (PMID: 22895193, PMID: 36936415), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, May 2024). |
| Associated Drug Resistance | |
| Category Variants Paths |
VHL mutant VHL L201P |
| Transcript | NM_000551.4 |
| gDNA | chr3:g.10149925T>C |
| cDNA | c.602T>C |
| Protein | p.L201P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000551.4 | chr3:g.10149925T>C | c.602T>C | p.L201P | RefSeq | GRCh38/hg38 |
| NM_000551.3 | chr3:g.10149925T>C | c.602T>C | p.L201P | RefSeq | GRCh38/hg38 |
| NM_000551 | chr3:g.10149925T>C | c.602T>C | p.L201P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| VHL L201P | unknown |