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Gene | VHL |
Variant | V74G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL V74G does not lie within any known functional domains of the Vhl protein (UniProt.org). V74G has been identified in the scientific literature (PMID: 18836774, PMID: 21710693), 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 V74G |
Transcript | NM_000551.4 |
gDNA | chr3:g.10142068T>G |
cDNA | c.221T>G |
Protein | p.V74G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551 | chr3:g.10142068T>G | c.221T>G | p.V74G | RefSeq | GRCh38/hg38 |
NM_198156 | chr3:g.10142068T>G | c.221T>G | p.V74G | RefSeq | GRCh38/hg38 |
NM_198156.2 | chr3:g.10142068T>G | c.221T>G | p.V74G | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10142068T>G | c.221T>G | p.V74G | RefSeq | GRCh38/hg38 |
NM_198156.3 | chr3:g.10142068T>G | c.221T>G | p.V74G | RefSeq | GRCh38/hg38 |
NM_001354723.1 | chr3:g.10142068T>G | c.221T>G | p.V74G | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10142068T>G | c.221T>G | p.V74G | RefSeq | GRCh38/hg38 |
NM_001354723.2 | chr3:g.10142068T>G | c.221T>G | p.V74G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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