Varaico: Literature-Extracted Genetic Variants

Gene:PMVK
Variant:p.S44C

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
1 paper
NM_006556.4
p.S44C
c.131C>G
Surrounding Variants
1 paper
NM_006556.4
p.L41F
c.121C>T
1 paper
NM_006556.4
p.K48M
c.143A>T
5 papers
NM_006556.4
p.K48R
c.143A>G
1 paper
NM_006556.4
p.G34R
c.100G>C
2 papers
NM_006556.4
p.G34R
c.100G>A
3 papers
NM_006556.4
p.R32*
c.94A>T
3 papers
NM_006556.4
p.H55Y
c.163C>T
1 paper
NM_006556.4
p.Q60H
c.180G>T
1 paper
NM_006556.4
p.Q60H
c.180G>C
1 paper
NM_006556.4
p.T67I
c.200C>T
1 paper
NM_006556.4
p.K69*
c.205A>T
3 papers
NM_006556.4
p.K69E
c.205A>G
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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."