Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.H24insFs

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
6 papers
NM_000431.4
p.H24insFs
c.72dupT
Surrounding Variants
3 papers
NM_000431.4
p.H24P
c.71A>C
3 papers
NM_000431.4
p.H24D
c.70C>G
2 papers
NM_000431.4
p.G25fs
c.73_74fs
1 paper
NM_000431.4
p.G25insFs
c.73_74insT
5 papers
NM_000431.4
p.G25fs
c.73_74fs
5 papers
NM_000431.4
p.G25V
c.74G>T
3 papers
NM_000431.4
p.G25G
c.75C>T
1 paper
NM_000431.4
p.K26fs
c.76_77fs
5 papers
NM_000431.4
p.V22M
c.64G>A
2 papers
NM_000431.4
p.K26K
c.78G>A
6 papers
NM_000431.4
p.A21V
c.62C>T
1 paper
NM_000431.4
p.A21P
c.61G>C
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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."