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| Gene | VHL |
| Variant | R161G |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | VHL R161G lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). R161G is predicted to confer a loss of function to the Vhl protein, as indicated by failure to bind to the elongin BC complex in an in vitro assay (PMID: 10587522). |
| Associated Drug Resistance | |
| Category Variants Paths |
VHL mutant VHL inact mut VHL R161G |
| Transcript | NM_000551.4 |
| gDNA | chr3:g.10149804C>G |
| cDNA | c.481C>G |
| Protein | p.R161G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000551 | chr3:g.10149804C>G | c.481C>G | p.R161G | RefSeq | GRCh38/hg38 |
| NM_000551.4 | chr3:g.10149804C>G | c.481C>G | p.R161G | RefSeq | GRCh38/hg38 |
| NM_000551.3 | chr3:g.10149804C>G | c.481C>G | p.R161G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| VHL R161G | loss of function - predicted | mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor |