Varaico: Literature-Extracted Genetic Variants

Gene:PMVK

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
1–12 of 63 variants
9 papers
NM_006556.4
p.R138*
c.412C>T
6 papers
NM_006556.4
p.E27*
c.79G>T
6 papers
NM_006556.4
p.R110Q
c.329G>A
5 papers
NM_006556.4
p.K48R
c.143A>G
4 papers
NM_006556.4
p.K22R
c.65A>G
4 papers
NM_006556.4
p.L105P
c.314T>C
4 papers
NM_006556.4
p.Q127*
c.379C>T
3 papers
NM_006556.4
p.R32*
c.94A>T
3 papers
NM_006556.4
p.R32*
c.94A>T
3 papers
NM_006556.4
p.H55Y
c.163C>T
3 papers
NM_006556.4
p.K69E
c.205A>G
3 papers
NM_006556.4
p.W104*
c.312G>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."