Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.Q390P

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
3 papers
NM_000431.4
p.Q390P
c.1169A>C
Surrounding Variants
1 paper
NM_000431.4
p.Q390*
c.1168C>T
2 papers
NM_000431.4
p.V389_D394del6
c.1165_1181del18
2 papers
NM_000431.4
p.A392T
c.1174G>A
3 papers
NM_000431.4
p.R388Q
c.1163G>A
1 paper
NM_000431.4
p.R388insFs
c.1163_1164insA
1 paper
NM_000431.4
p.R388insFs
c.1162_1163insA
20 papers
NM_000431.4
p.R388*
c.1162C>T
10 papers
NM_000431.4
p.D386N
c.1156G>A
1 paper
NM_000431.4
p.S384F
c.1151C>T
1 paper
NM_000431.4
p.S384P
c.1150T>C
1 paper
NM_000431.4
p.A382A
c.1146C>G
2 papers
NM_000431.4
p.A382P
c.1144G>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."