Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.E183E

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.E183E
c.549G>A
Surrounding Variants
2 papers
NM_000431.4
p.L184delFs
c.550delC
1 paper
NM_000431.4
p.E183V
c.548A>T
1 paper
NM_000431.4
p.L182F
c.546G>C
2 papers
NM_000431.4
p.L182F
c.546G>T
1 paper
NM_000431.4
p.I185_K187Fs
c.554_559delinsTGTGFs
2 papers
NM_000431.4
p.E180K
c.538G>A
1 paper
NM_000431.4
p.W188R
c.562T>A
1 paper
NM_000431.4
p.W188R
c.562T>C
11 papers
NM_000431.4
p.W188*
c.563G>A
12 papers
NM_000431.4
p.W188*
c.564G>A
4 papers
NM_000431.4
p.A189V
c.566C>T
1 paper
NM_000431.4
p.W177*
c.531G>A
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