Varaico: Literature-Extracted Genetic Variants

Gene:PMVK
Variant:p.L105P

PMVK

77 papers

RefSeq Summary

This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded pro...

Pfam Domains

P-mevalo_kinaseaa 14–124UCSCPhosphomevalonate kinase

Gene Aliases

HGNC Name

phosphomevalonate kinase

HGNC Alias Symbols

PMK; PMKA; HUMPMKI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_006556.4
p.L105P
c.314T>C
Surrounding Variants
2 papers
NM_006556.4
p.V106M
c.316G>A
1 paper
NM_006556.4
p.S107C
c.319A>T
1 paper
NM_006556.4
p.D108A
c.323A>C
6 papers
NM_006556.4
p.R110Q
c.329G>A
1 paper
NM_006556.4
p.V125M
c.373G>A
4 papers
NM_006556.4
p.Q127*
c.379C>T
1 paper
NM_006556.4
p.V131I
c.391G>A
3 papers
NM_006556.4
p.V131A
c.392T>C
2 papers
NM_006556.4
p.A133V
c.398C>T
1 paper
NM_006556.4
p.Q136*
c.406C>T
9 papers
NM_006556.4
p.R138*
c.412C>T
1 paper
NM_006556.4
p.R138Q
c.413G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."