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| Gene | VHL |
| Variant | Y98C |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | VHL Y98C does not lie within any known functional domains of the Vhl protein (UniProt.org). Y98C results in cellular fitness similar to neutral variants in a high-throughput cell culture assay (PMID: 38969834), and therefore, is predicted to have no effect on Vhl protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
VHL mutant VHL Y98C |
| Transcript | NM_000551.4 |
| gDNA | chr3:g.10142140A>G |
| cDNA | c.293A>G |
| Protein | p.Y98C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_198156 | chr3:g.10142140A>G | c.293A>G | p.Y98C | RefSeq | GRCh38/hg38 |
| NM_000551.3 | chr3:g.10142140A>G | c.293A>G | p.Y98C | RefSeq | GRCh38/hg38 |
| NM_198156.2 | chr3:g.10142140A>G | c.293A>G | p.Y98C | RefSeq | GRCh38/hg38 |
| NM_198156.3 | chr3:g.10142140A>G | c.293A>G | p.Y98C | RefSeq | GRCh38/hg38 |
| NM_000551.4 | chr3:g.10142140A>G | c.293A>G | p.Y98C | RefSeq | GRCh38/hg38 |
| NM_000551 | chr3:g.10142140A>G | c.293A>G | p.Y98C | RefSeq | GRCh38/hg38 |
| NM_001354723.1 | chr3:g.10142140A>G | c.293A>G | p.Y98C | RefSeq | GRCh38/hg38 |
| NM_001354723.2 | chr3:g.10142140A>G | c.293A>G | p.Y98C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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