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Gene | VHL |
Variant | E173D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL E173D does not lie within any known functional domains of the Vhl protein (UniProt.org). E173D has not been characterized in the scientific literature and therefore, its effect on Vhl protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL E173D |
Transcript | NM_000551.4 |
gDNA | chr3:g.10149842G>C |
cDNA | c.519G>C |
Protein | p.E173D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551.3 | chr3:g.10149842G>C | c.519G>C | p.E173D | RefSeq | GRCh38/hg38 |
NM_000551 | chr3:g.10149842G>C | c.519G>C | p.E173D | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10149842G>C | c.519G>C | p.E173D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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