Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.D204N

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.D204N
c.610G>A
Surrounding Variants
1 paper
NM_000431.4
p.D204A
c.611A>C
3 papers
NM_000431.4
p.D204E
c.612C>A
3 papers
NM_000431.4
p.D204E
c.612C>G
11 papers
NM_000431.4
p.V203A
c.608T>C
18 papers
NM_000431.4
p.N205D
c.613A>G
1 paper
NM_000431.4
p.N205Y
c.613A>T
6 papers
NM_000431.4
p.V203fs
c.607_608fs
1 paper
NM_000431.4
p.V203_A206Fs
c.607_617delinsTFs
1 paper
NM_000431.4
p.V203insFs
c.607_608insG
7 papers
NM_000431.4
p.G202E
c.605G>A
1 paper
NM_000431.4
p.A206_V207del2
c.616_620del6
27 papers
NM_000431.4
p.G202R
c.604G>A
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