Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.V310L

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
4 papers
NM_000431.4
p.V310L
c.928G>T
Surrounding Variants
32 papers
NM_000431.4
p.V310M
c.928G>A
4 papers
NM_000431.4
p.V310L
c.928G>C
7 papers
NM_000431.4
p.G309V
c.926G>T
1 paper
NM_000431.4
p.V310V
c.930G>T
13 papers
NM_000431.4
p.G309S
c.925G>A
1 paper
NM_000431.4
p.G311S
c.931G>A
2 papers
NM_000431.4
p.G309R
c.925G>C
2 papers
NM_000431.4
p.G311R
c.931G>C
2 papers
NM_000431.4
p.L308L
c.924C>T
1 paper
NM_000431.4
p.L308F
c.922C>T
4 papers
NM_000431.4
p.H312P
c.935A>C
10 papers
NM_000431.4
p.H312R
c.935A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."