Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.P288L

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
7 papers
NM_000431.4
p.P288L
c.863C>T
Surrounding Variants
1 paper
NM_000431.4
p.A287P
c.859G>C
4 papers
NM_000431.4
p.P286L
c.857C>T
1 paper
NM_000431.4
p.Q290H
c.870G>C
1 paper
NM_000431.4
p.Q290H
c.870G>T
8 papers
NM_000431.4
p.Y291D
c.871T>G
3 papers
NM_000431.4
p.A285insFs
c.853_854insA
5 papers
NM_000431.4
p.A285fs
c.853_854fs
1 paper
NM_000431.4
p.L292F
c.874C>T
6 papers
NM_000431.4
p.E284insFs
c.852dupA
2 papers
NM_000431.4
p.E284fs
c.850_851fs
7 papers
NM_000431.4
p.V293M
c.877G>A
3 papers
NM_000431.4
p.M282T
c.845T>C
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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."