Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.V207I

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.V207I
c.619G>A
Surrounding Variants
1 paper
NM_000431.4
p.V207D
c.620T>A
2 papers
NM_000431.4
p.S208T
c.623G>C
1 paper
NM_000431.4
p.A206_V207del2
c.616_620del6
1 paper
NM_000431.4
p.S208R
c.624C>A
18 papers
NM_000431.4
p.N205D
c.613A>G
9 papers
NM_000431.4
p.T209A
c.625A>G
1 paper
NM_000431.4
p.N205Y
c.613A>T
3 papers
NM_000431.4
p.D204E
c.612C>A
3 papers
NM_000431.4
p.D204E
c.612C>G
1 paper
NM_000431.4
p.T209I
c.626C>T
1 paper
NM_000431.4
p.D204A
c.611A>C
2 papers
NM_000431.4
p.D204N
c.610G>A
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