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Gene | VHL |
Variant | L163F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL L163F lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). L163F has been identified in the scientific literature (PMID: 17102088, PMID: 32671223), 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 L163F |
Transcript | NM_000551.4 |
gDNA | chr3:g.10149810C>T |
cDNA | c.487C>T |
Protein | p.L163F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.3 | chr3:g.10149810C>T | c.487C>T | p.L163F | RefSeq | GRCh38/hg38 |
NM_001354723.1 | chr3:g.10142911G>T | c.489G>T | p.L163F | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10149810C>T | c.487C>T | p.L163F | RefSeq | GRCh38/hg38 |
NM_000551 | chr3:g.10149810C>T | c.487C>T | p.L163F | RefSeq | GRCh38/hg38 |
NM_001354723.2 | chr3:g.10142911G>T | c.489G>T | p.L163F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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