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 | V155fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | VHL V155fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 155 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). V155fs has not been characterized, however, due to the effects of other truncation mutations downstream of V155 (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 V155fs |
Transcript | NM_000551.4 |
gDNA | chr3:g.(10146635_10146636) |
cDNA | c.(463_462) |
Protein | p.V155fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.4 | chr3:g.(10146635_10146636) | c.(463_462) | p.V155fs | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.(10146635_10146636) | c.(463_462) | p.V155fs | RefSeq | GRCh38/hg38 |
NM_000551 | chr3:g.(10146635_10146636) | c.(463_462) | p.V155fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
VHL V155fs | loss of function - predicted | mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor |