Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.L331P

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
1 paper
NM_000431.4
p.L331P
c.992T>C
Surrounding Variants
7 papers
NM_000431.4
p.S329R
c.987C>A
7 papers
NM_000431.4
p.S329R
c.987C>G
1 paper
NM_000431.4
p.G333R
c.997G>C
1 paper
NM_000431.4
p.G333C
c.997G>T
6 papers
NM_000431.4
p.S329N
c.986G>A
7 papers
NM_000431.4
p.S329R
c.985A>C
41 papers
NM_000431.4
p.A334T
c.1000G>A
4 papers
NM_000431.4
p.G335S
c.1003G>A
11 papers
NM_000431.4
p.G335D
c.1004G>A
3 papers
NM_000431.4
p.G335A
c.1004G>C
23 papers
NM_000431.4
p.G336S
c.1006G>A
4 papers
NM_000431.4
p.G326E
c.977G>A
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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."