Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.A141fs

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
9 papers
NM_000431.4
p.A141fs
c.421_422fs
Surrounding Variants
6 papers
NM_000431.4
p.A141fs
c.421_422fs
1 paper
NM_000431.4
p.A141insFs
c.422_423insG
1 paper
NM_000431.4
p.G140_G142delFs
c.420_426del7
1 paper
NM_000431.4
p.G140insFs
c.418_419insC
6 papers
NM_000431.4
p.G140fs
c.418_419fs
12 papers
NM_000431.4
p.G140fs
c.418_419fs
6 papers
NM_000431.4
p.A141insFs
c.421dupG
1 paper
NM_000431.4
p.G140_A141insFs
c.420_421dupGG
1 paper
NM_000431.4
p.G142D
c.425G>A
2 papers
NM_000431.4
p.P138fs
c.412_413fs
2 papers
NM_000431.4
p.P138S
c.412C>T
1 paper
NM_000431.4
p.G144S
c.430G>A
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