Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.E162G

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.E162G
c.485A>G
Surrounding Variants
1 paper
NM_000431.4
p.E162K
c.484G>A
1 paper
NM_000431.4
p.C161W
c.483C>G
1 paper
NM_000431.4
p.E163_I164delFs
c.488_491del4
1 paper
NM_000431.4
p.C161Y
c.482G>A
1 paper
NM_000431.4
p.C161F
c.482G>T
2 papers
NM_000431.4
p.C161R
c.481T>C
6 papers
NM_000431.4
p.C161fs
c.481_482fs
2 papers
NM_000431.4
p.V160_R176del0
c.480_527del48
1 paper
NM_000431.4
p.V160L
c.478G>C
1 paper
NM_000431.4
p.V160L
c.478G>T
12 papers
NM_000431.4
p.P165L
c.494C>T
8 papers
NM_000431.4
p.C161delFs
c.481_482delTG
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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."