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Gene | VHL |
Variant | R107G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL R107G lies within the CCT complex-binding region of the Vhl protein (UniProt.org). R107G has been identified in the scientific literature (PMID: 18836774), 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 R107G |
Transcript | NM_000551.4 |
gDNA | chr3:g.10142166C>G |
cDNA | c.319C>G |
Protein | p.R107G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |