Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.K26_V27Splc

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.K26_V27Splc
c.79-2A>G
Surrounding Variants
1 paper
NM_000431.4
p.K26_V27Splc
c.79-1G>T
1 paper
NM_000431.4
p.V27I
c.79G>A
1 paper
NM_000431.4
p.V27fs
c.79_80fs
3 papers
NM_000431.4
p.A28T
c.82G>A
1 paper
NM_000431.4
p.A28S
c.82G>T
1 paper
NM_000431.4
p.A28V
c.83C>T
3 papers
NM_000431.4
p.L29fs
c.85_86fs
1 paper
NM_000431.4
p.L29fs
c.85_86fs
1 paper
NM_000431.4
p.V31G
c.92T>G
9 papers
NM_000431.4
p.L35S
c.104T>C
1 paper
NM_000431.4
p.R36*
c.106A>T
1 paper
NM_000431.4
p.R36K
c.107G>A
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