Varaico: Literature-Extracted Genetic Variants

Gene:MVK

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
1–12 of 589 variants
271 papers
NM_000431.4
p.V377I
c.1129G>A
134 papers
NM_000431.4
p.I268T
c.803T>C
60 papers
NM_000431.4
p.H20P
c.59A>C
41 papers
NM_000431.4
p.A334T
c.1000G>A
36 papers
NM_000431.4
p.S52N
c.155G>A
34 papers
NM_000431.4
p.P167L
c.500C>T
32 papers
NM_000431.4
p.V310M
c.928G>A
27 papers
NM_000431.4
p.G202R
c.604G>A
24 papers
NM_000431.4
p.G202R
c.604G>C
23 papers
NM_000431.4
p.T237S
c.710C>G
23 papers
NM_000431.4
p.G336S
c.1006G>A
22 papers
NM_000431.4
p.T237S
c.709A>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."