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Gene | VHL |
Variant | I151N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL I151N lies within the CCT complex-binding region of the Vhl protein (UniProt.org). I151N has been identified in the scientific literature (PMID: 29941223), 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 I151N |
Transcript | NM_000551.4 |
gDNA | chr3:g.10146625T>A |
cDNA | c.452T>A |
Protein | p.I151N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551 | chr3:g.10146625T>A | c.452T>A | p.I151N | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10146625T>A | c.452T>A | p.I151N | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10146625T>A | c.452T>A | p.I151N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
VHL I151N | unknown |