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 | R161fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | VHL R161fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 161 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). R161fs has not been characterized, however, due to the effects of other truncation mutations downstream of R161 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL inact mut VHL R161fs |
Transcript | NM_000551.4 |
gDNA | chr3:g.(10149803_10149804) |
cDNA | c.(481_480) |
Protein | p.R161fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.3 | chr3:g.(10149803_10149804) | c.(481_480) | p.R161fs | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.(10149803_10149804) | c.(481_480) | p.R161fs | RefSeq | GRCh38/hg38 |
NM_000551 | chr3:g.(10149803_10149804) | c.(481_480) | p.R161fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
VHL R161fs | loss of function - predicted |