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 | I151T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL I151T lies within the CCT complex-binding region of the Vhl protein (UniProt.org). I151T has been identified in sequencing studies (PMID: 24446253, PMID: 24504440, PMID: 23036577), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL I151T |
Transcript | NM_000551.4 |
gDNA | chr3:g.10146625T>C |
cDNA | c.452T>C |
Protein | p.I151T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.4 | chr3:g.10146625T>C | c.452T>C | p.I151T | RefSeq | GRCh38/hg38 |
NM_000551 | chr3:g.10146625T>C | c.452T>C | p.I151T | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10146625T>C | c.452T>C | p.I151T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|