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Gene | VHL |
Variant | Q73E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL Q73E does not lie within any known functional domains of the Vhl1 protein (UniProt.org). Q73E has not been characterized in the scientific literature and therefore, its effect on Vhl protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL Q73E |
Transcript | NM_000551.4 |
gDNA | chr3:g.10142064C>G |
cDNA | c.217C>G |
Protein | p.Q73E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551 | chr3:g.10142064C>G | c.217C>G | p.Q73E | RefSeq | GRCh38/hg38 |
NM_198156 | chr3:g.10142064C>G | c.217C>G | p.Q73E | RefSeq | GRCh38/hg38 |
NM_001354723.1 | chr3:g.10142064C>G | c.217C>G | p.Q73E | RefSeq | GRCh38/hg38 |
NM_198156.2 | chr3:g.10142064C>G | c.217C>G | p.Q73E | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10142064C>G | c.217C>G | p.Q73E | RefSeq | GRCh38/hg38 |
NM_001354723.2 | chr3:g.10142064C>G | c.217C>G | p.Q73E | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10142064C>G | c.217C>G | p.Q73E | RefSeq | GRCh38/hg38 |
NM_198156.3 | chr3:g.10142064C>G | c.217C>G | p.Q73E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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