Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.V377I

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
271 papers
NM_000431.4
p.V377I
c.1129G>A
Surrounding Variants
8 papers
NM_000431.4
p.G376V
c.1127G>T
14 papers
NM_000431.4
p.G376S
c.1126G>A
1 paper
NM_000431.4
p.G376R
c.1126G>C
2 papers
NM_000431.4
p.G376fs
c.1126_1127fs
10 papers
NM_000431.4
p.S378P
c.1132T>C
2 papers
NM_000431.4
p.I379N
c.1136T>A
4 papers
NM_000431.4
p.A374D
c.1121C>A
1 paper
NM_000431.4
p.A374delFs
c.1121delC
1 paper
NM_000431.4
p.A374_V377delFs
c.1121_1130del10
13 papers
NM_000431.4
p.H380R
c.1139A>G
2 papers
NM_000431.4
p.I372M
c.1116C>G
2 papers
NM_000431.4
p.A382_T383del2
c.1144_1148del6
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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."