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| Gene | VHL |
| Variant | P81T |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | VHL P81T does not lie within any known functional domains of the Vhl protein (UniProt.org). P81T has been identified in sequencing studies (PMID: 21602815), 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 P81T |
| Transcript | NM_000551.4 |
| gDNA | chr3:g.10142088C>A |
| cDNA | c.241C>A |
| Protein | p.P81T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_198156 | chr3:g.10142088C>A | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
| NM_001354723.2 | chr3:g.10142088C>A | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
| NM_001354723.1 | chr3:g.10142088C>A | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
| NM_000551.3 | chr3:g.10142088C>A | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
| NM_000551.4 | chr3:g.10142088C>A | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
| NM_000551 | chr3:g.10142088C>A | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
| NM_198156.2 | chr3:g.10142088C>A | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
| NM_198156.3 | chr3:g.10142088C>A | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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