Varaico: Literature-Extracted Genetic Variants

Gene:PMVK
Variant:p.K22R

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.K22R
c.65A>G
Surrounding Variants
1 paper
NM_006556.4
p.K22M
c.65A>T
1 paper
NM_006556.4
p.D23V
c.68A>T
6 papers
NM_006556.4
p.E27*
c.79G>T
2 papers
NM_006556.4
p.G16C
c.46G>T
1 paper
NM_006556.4
p.Q30*
c.88C>T
3 papers
NM_006556.4
p.R32*
c.94A>T
1 paper
NM_006556.4
p.P8_R9insFs
c.24_25ins4
1 paper
NM_006556.4
p.A7insFs
c.20_21ins4
1 paper
NM_006556.4
p.G6R
c.16G>C
1 paper
NM_006556.4
p.G5R
c.13G>C
1 paper
NM_006556.4
p.G5R
c.13G>A
1 paper
NM_006556.4
p.P3R
c.8C>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."