Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.N301I

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.N301I
c.902A>T
Surrounding Variants
18 papers
NM_000431.4
p.N301T
c.902A>C
4 papers
NM_000431.4
p.N301fs
c.901_902fs
5 papers
NM_000431.4
p.Q302*
c.904C>T
4 papers
NM_000431.4
p.N301delFs
c.902delA
2 papers
NM_000431.4
p.D299N
c.895G>A
6 papers
NM_000431.4
p.H304Y
c.910C>T
2 papers
NM_000431.4
p.I298T
c.893T>C
2 papers
NM_000431.4
p.L305V
c.913C>G
9 papers
NM_000431.4
p.L305P
c.914T>C
4 papers
NM_000431.4
p.L297I
c.889C>A
1 paper
NM_000431.4
p.E296G
c.887A>G
1 paper
NM_000431.4
p.E296Q
c.886G>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."