Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.S52N

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
36 papers
NM_000431.4
p.S52N
c.155G>A
Surrounding Variants
1 paper
NM_000431.4
p.L51P
c.152T>C
1 paper
NM_000431.4
p.L53*
c.158T>G
5 papers
NM_000431.4
p.L51F
c.151C>T
2 papers
NM_000431.4
p.P54S
c.160C>T
1 paper
NM_000431.4
p.V49E
c.146T>A
5 papers
NM_000431.4
p.I56V
c.166A>G
2 papers
NM_000431.4
p.K48R
c.143A>G
1 paper
NM_000431.4
p.K59K
c.177G>A
1 paper
NM_000431.4
p.R60W
c.178C>T
4 papers
NM_000431.4
p.H44fs
c.130_131fs
2 papers
NM_000431.4
p.H44Y
c.130C>T
2 papers
NM_000431.4
p.H44fs
c.130_131fs
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