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 | I75_C77del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | VHL I75_C77del results in the deletion of three amino acids of the Vhl protein from amino acids 75 to 77 (UniProt.org). I75_C77del 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 I75_C77del |
Transcript | NM_000551.4 |
gDNA | chr3:g.10142071_10142079delTCTTCTGCA |
cDNA | c.224_232delTCTTCTGCA |
Protein | p.I75_C77delIFC |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_198156.2 | chr3:g.10142071_10142079delTCTTCTGCA | c.224_232delTCTTCTGCA | p.I75_C77del | RefSeq | GRCh38/hg38 |
NM_198156.3 | chr3:g.10142071_10142079delTCTTCTGCA | c.224_232delTCTTCTGCA | p.I75_C77delIFC | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10142071_10142079delTCTTCTGCA | c.224_232delTCTTCTGCA | p.I75_C77delIFC | RefSeq | GRCh38/hg38 |
NM_001354723.1 | chr3:g.10142071_10142079delTCTTCTGCA | c.224_232delTCTTCTGCA | p.I75_C77del | RefSeq | GRCh38/hg38 |
NM_001354723.2 | chr3:g.10142071_10142079delTCTTCTGCA | c.224_232delTCTTCTGCA | p.I75_C77delIFC | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10142071_10142079delTCTTCTGCA | c.224_232delTCTTCTGCA | p.I75_C77del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|