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| Gene | VHL |
| Variant | P154L |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | VHL P154L lies within the CCT complex-binding region of the Vhl protein (UniProt.org). P154L results in a loss of Vhl binding to Tbp-1 and failure to mediate hypoxia-induced Hif1a degradation in culture (PMID: 14556007). |
| Associated Drug Resistance | |
| Category Variants Paths |
VHL mutant VHL inact mut VHL P154L |
| Transcript | NM_000551.4 |
| gDNA | chr3:g.10146634C>T |
| cDNA | c.461C>T |
| Protein | p.P154L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000551 | chr3:g.10146634C>T | c.461C>T | p.P154L | RefSeq | GRCh38/hg38 |
| NM_000551.4 | chr3:g.10146634C>T | c.461C>T | p.P154L | RefSeq | GRCh38/hg38 |
| NM_000551.3 | chr3:g.10146634C>T | c.461C>T | p.P154L | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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