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 | V166F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | VHL V166F lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). V166F results in reduced binding to elongin B and Cul2 in cell culture (PMID: 10587522), and therefore, is predicted to lead to a loss of Vhl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL inact mut VHL V166F |
Transcript | NM_000551.4 |
gDNA | chr3:g.10149819G>T |
cDNA | c.496G>T |
Protein | p.V166F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.4 | chr3:g.10149819G>T | c.496G>T | p.V166F | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10149819G>T | c.496G>T | p.V166F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
VHL V166F | leukemia | resistant | ARV-771 | Preclinical - Cell culture | Actionable | In a preclinical study, a leukemia cell line demonstrated resistance to ARV-771 and was found to have acquired VHL V166F in culture (PMID: 36329119). | 36329119 |