Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.W188*

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
12 papers
NM_000431.4
p.W188*
c.564G>A
Surrounding Variants
11 papers
NM_000431.4
p.W188*
c.563G>A
4 papers
NM_000431.4
p.A189V
c.566C>T
1 paper
NM_000431.4
p.W188R
c.562T>A
1 paper
NM_000431.4
p.W188R
c.562T>C
1 paper
NM_000431.4
p.Q191delFs
c.571delC
1 paper
NM_000431.4
p.Q191*
c.571C>T
1 paper
NM_000431.4
p.Q191fs
c.571_572fs
1 paper
NM_000431.4
p.I185_K187Fs
c.554_559delinsTGTGFs
2 papers
NM_000431.4
p.G192E
c.575G>A
1 paper
NM_000431.4
p.E193K
c.577G>A
3 papers
NM_000431.4
p.E193Q
c.577G>C
1 paper
NM_000431.4
p.E193A
c.578A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."