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Gene | VHL |
Variant | V165D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL V165D lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). V165D has been identified in sequencing studies (PMID: 24727139, PMID: 36515470), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL V165D |
Transcript | NM_000551.4 |
gDNA | chr3:g.10149817T>A |
cDNA | c.494T>A |
Protein | p.V165D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551 | chr3:g.10149817T>A | c.494T>A | p.V165D | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10149817T>A | c.494T>A | p.V165D | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10149817T>A | c.494T>A | p.V165D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
VHL V165D | unknown |