Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.I268T

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
134 papers
NM_000431.4
p.I268T
c.803T>C
Surrounding Variants
4 papers
NM_000431.4
p.I268V
c.802A>G
4 papers
NM_000431.4
p.D269H
c.805G>C
1 paper
NM_000431.4
p.S267L
c.800C>T
1 paper
NM_000431.4
p.T266P
c.796A>C
12 papers
NM_000431.4
p.L265P
c.794T>C
16 papers
NM_000431.4
p.L265R
c.794T>G
1 paper
NM_000431.4
p.L265V
c.793C>G
2 papers
NM_000431.4
p.S272P
c.814T>C
10 papers
NM_000431.4
p.S272F
c.815C>T
2 papers
NM_000431.4
p.L264H
c.791T>A
1 paper
NM_000431.4
p.L264P
c.791T>C
4 papers
NM_000431.4
p.L264V
c.790C>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."