Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.H44fs

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
2 papers
NM_000431.4
p.H44fs
c.130_131fs
Surrounding Variants
4 papers
NM_000431.4
p.H44fs
c.130_131fs
2 papers
NM_000431.4
p.H44Y
c.130C>T
2 papers
NM_000431.4
p.P43_H44delFs
c.129_130delCC
1 paper
NM_000431.4
p.L41L
c.123T>G
9 papers
NM_000431.4
p.L41P
c.122T>C
5 papers
NM_000431.4
p.L41R
c.122T>G
1 paper
NM_000431.4
p.R40Q
c.119G>A
1 paper
NM_000431.4
p.R40L
c.119G>T
5 papers
NM_000431.4
p.R40W
c.118C>T
2 papers
NM_000431.4
p.K48R
c.143A>G
9 papers
NM_000431.4
p.L39P
c.116T>C
6 papers
NM_000431.4
p.L39F
c.115C>T
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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."