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Gene | VHL |
Variant | R161L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL R161L lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). R161L 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 R161L |
Transcript | NM_000551.4 |
gDNA | chr3:g.10149805G>T |
cDNA | c.482G>T |
Protein | p.R161L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.3 | chr3:g.10149805G>T | c.482G>T | p.R161L | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10149805G>T | c.482G>T | p.R161L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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