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Gene | VHL |
Variant | H110L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL H110L lies within the CCT complex-binding region of the Vhl protein (UniProt.org). H110L has been identified in the scientific literature (PMID: 36329119), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL H110L |
Transcript | NM_000551.4 |
gDNA | chr3:g.10142176A>T |
cDNA | c.329A>T |
Protein | p.H110L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.4 | chr3:g.10142176A>T | c.329A>T | p.H110L | RefSeq | GRCh38/hg38 |
NM_001354723.2 | chr3:g.10142176A>T | c.329A>T | p.H110L | RefSeq | GRCh38/hg38 |
NM_001354723.1 | chr3:g.10142176A>T | c.329A>T | p.H110L | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10142176A>T | c.329A>T | p.H110L | RefSeq | GRCh38/hg38 |
NM_198156.3 | chr3:g.10142176A>T | c.329A>T | p.H110L | RefSeq | GRCh38/hg38 |
NM_198156.2 | chr3:g.10142176A>T | c.329A>T | p.H110L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
VHL H110L | unknown |