Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | VHL |
| Variant | R161L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | VHL R161L lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). R161L has not been characterized in the scientific literature and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024). |
| Associated Drug Resistance | |
| Category Variants Paths |
VHL mutant VHL R161L |
| Transcript | NM_000551.4 |
| gDNA | chr3:g.10149805G>T |
| cDNA | c.482G>T |
| Protein | p.R161L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000551.4 | chr3:g.10149805G>T | c.482G>T | p.R161L | RefSeq | GRCh38/hg38 |
| NM_000551.3 | chr3:g.10149805G>T | c.482G>T | p.R161L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| VHL R161L | unknown |