Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.F38_L39ins4

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
2 papers
NM_000431.4
p.F38_L39ins4
c.112_116ins12
Surrounding Variants
1 paper
NM_000431.4
p.T37T
c.111A>G
7 papers
NM_000431.4
p.T37I
c.110C>T
6 papers
NM_000431.4
p.L39F
c.115C>T
9 papers
NM_000431.4
p.L39P
c.116T>C
1 paper
NM_000431.4
p.R36K
c.107G>A
2 papers
NM_000431.4
p.R36T
c.107G>C
1 paper
NM_000431.4
p.R36*
c.106A>T
5 papers
NM_000431.4
p.R40W
c.118C>T
1 paper
NM_000431.4
p.R40Q
c.119G>A
1 paper
NM_000431.4
p.R40L
c.119G>T
9 papers
NM_000431.4
p.L35S
c.104T>C
9 papers
NM_000431.4
p.L41P
c.122T>C
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