Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.I196_D204del0

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.I196_D204del0
c.586_612del27
Surrounding Variants
1 paper
NM_000431.4
p.H197P
c.590A>C
1 paper
NM_000431.4
p.E193A
c.578A>C
4 papers
NM_000431.4
p.G198R
c.592G>A
1 paper
NM_000431.4
p.G198R
c.592G>C
1 paper
NM_000431.4
p.E193K
c.577G>A
3 papers
NM_000431.4
p.E193Q
c.577G>C
2 papers
NM_000431.4
p.G192E
c.575G>A
1 paper
NM_000431.4
p.P200delFs
c.600delC
1 paper
NM_000431.4
p.P200T
c.598C>A
2 papers
NM_000431.4
p.P200S
c.598C>T
1 paper
NM_000431.4
p.Q191*
c.571C>T
1 paper
NM_000431.4
p.Q191fs
c.571_572fs
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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."