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Gene | VHL |
Variant | V155M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL V155M lies within the CCT complex-binding region of the Vhl protein (UniProt.org). V155M has been identified in sequencing studies (PMID: 28893800, PMID: 24471421), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL V155M |
Transcript | NM_000551.4 |
gDNA | chr3:g.10146636G>A |
cDNA | c.463G>A |
Protein | p.V155M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551 | chr3:g.10146636G>A | c.463G>A | p.V155M | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10146636G>A | c.463G>A | p.V155M | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10146636G>A | c.463G>A | p.V155M | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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