Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.N242insFs

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.N242insFs
c.726dupT
Surrounding Variants
3 papers
NM_000431.4
p.T243A
c.727A>G
2 papers
NM_000431.4
p.T243fs
c.727_728fs
10 papers
NM_000431.4
p.T243I
c.728C>T
2 papers
NM_000431.4
p.R241H
c.722G>A
1 paper
NM_000431.4
p.R241L
c.722G>T
4 papers
NM_000431.4
p.R241C
c.721C>T
1 paper
NM_000431.4
p.A245insFs
c.733dupG
1 paper
NM_000431.4
p.A245fs
c.733_734fs
1 paper
NM_000431.4
p.V239D
c.716T>A
7 papers
NM_000431.4
p.L246P
c.737T>C
1 paper
NM_000431.4
p.V247fs
c.739_740fs
6 papers
NM_000431.4
p.T237N
c.710C>A
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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."