Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.C319S

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.C319S
c.956G>C
Surrounding Variants
1 paper
NM_000431.4
p.C319S
c.955T>A
1 paper
NM_000431.4
p.L318H
c.953T>A
4 papers
NM_000431.4
p.V321A
c.962T>C
8 papers
NM_000431.4
p.T322S
c.964A>T
1 paper
NM_000431.4
p.T322delFs
c.965delC
1 paper
NM_000431.4
p.D316A
c.947A>C
4 papers
NM_000431.4
p.T322N
c.965C>A
8 papers
NM_000431.4
p.T322S
c.965C>G
1 paper
NM_000431.4
p.L315V
c.943C>G
1 paper
NM_000431.4
p.L315fs
c.943_944fs
1 paper
NM_000431.4
p.S314C
c.941C>G
1 paper
NM_000431.4
p.A324V
c.971C>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."