Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.S329N

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
6 papers
NM_000431.4
p.S329N
c.986G>A
Surrounding Variants
7 papers
NM_000431.4
p.S329R
c.985A>C
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.L331P
c.992T>C
4 papers
NM_000431.4
p.G326E
c.977G>A
21 papers
NM_000431.4
p.G326R
c.976G>A
21 papers
NM_000431.4
p.G326R
c.976G>C
1 paper
NM_000431.4
p.G333R
c.997G>C
1 paper
NM_000431.4
p.G333C
c.997G>T
1 paper
NM_000431.4
p.R325H
c.974G>A
1 paper
NM_000431.4
p.R325insFs
c.974dupG
2 papers
NM_000431.4
p.R325C
c.973C>T
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