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Gene | VHL |
Variant | R108del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | VHL R108del results in the deletion of an amino acid in the CCT complex-binding region of the Vhl protein at amino acid 108 (UniProt.org). R108del 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 R108del |
Transcript | NM_000551.4 |
gDNA | chr3:g.10142169_10142171delCGC |
cDNA | c.322_324delCGC |
Protein | p.R108delR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.4 | chr3:g.10142169_10142171delCGC | c.322_324delCGC | p.R108del | RefSeq | GRCh38/hg38 |
NM_001354723.2 | chr3:g.10142169_10142171delCGC | c.322_324delCGC | p.R108delR | RefSeq | GRCh38/hg38 |
NM_001354723.2 | chr3:g.10142169_10142171delCGC | c.322_324delCGC | p.R108del | RefSeq | GRCh38/hg38 |
NM_198156.3 | chr3:g.10142169_10142171delCGC | c.322_324delCGC | p.R108delR | RefSeq | GRCh38/hg38 |
NM_198156.3 | chr3:g.10142169_10142171delCGC | c.322_324delCGC | p.R108del | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10142169_10142171delCGC | c.322_324delCGC | p.R108delR | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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