Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.E19Q

MVK

633 papers

RefSeq Summary

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency...

Pfam Domains

GHMP_kinases_Naa 108–212UCSCGHMP kinases N terminal domain
GHMP_kinases_Caa 291–364UCSCGHMP kinases C terminal

Gene Aliases

HGNC Name

mevalonate kinase

HGNC Alias Symbols

LRBP; MK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000431.4
p.E19Q
c.55G>C
Surrounding Variants
2 papers
NM_000431.4
p.E19K
c.55G>A
3 papers
NM_000431.4
p.E19A
c.56A>C
1 paper
NM_000431.4
p.G18G
c.54A>T
3 papers
NM_000431.4
p.E19D
c.57A>C
3 papers
NM_000431.4
p.E19D
c.57A>T
13 papers
NM_000431.4
p.H20N
c.58C>A
1 paper
NM_000431.4
p.H20Y
c.58C>T
4 papers
NM_000431.4
p.G18R
c.52G>A
5 papers
NM_000431.4
p.G18R
c.52G>C
60 papers
NM_000431.4
p.H20P
c.59A>C
1 paper
NM_000431.4
p.H20R
c.59A>G
2 papers
NM_000431.4
p.H20L
c.59A>T
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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."