Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.L234P

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
10 papers
NM_000431.4
p.L234P
c.701T>C
Surrounding Variants
1 paper
NM_000431.4
p.T235N
c.704C>A
1 paper
NM_000431.4
p.I232S
c.695T>G
1 paper
NM_000431.4
p.N236K
c.708C>A
1 paper
NM_000431.4
p.N236K
c.708C>G
22 papers
NM_000431.4
p.T237S
c.709A>T
6 papers
NM_000431.4
p.T237N
c.710C>A
23 papers
NM_000431.4
p.T237S
c.710C>G
4 papers
NM_000431.4
p.L230P
c.689T>C
1 paper
NM_000431.4
p.V239D
c.716T>A
1 paper
NM_000431.4
p.P228P
c.684A>G
2 papers
NM_000431.4
p.P228L
c.683C>T
3 papers
NM_000431.4
p.P228S
c.682C>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."