Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.S371del1

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.S371del1
c.1111_1113delAGC
Surrounding Variants
1 paper
NM_000431.4
p.T370P
c.1108A>C
1 paper
NM_000431.4
p.S371_V377del0
c.1112_1129del18
2 papers
NM_000431.4
p.I372M
c.1116C>G
7 papers
NM_000431.4
p.C367S
c.1100G>C
7 papers
NM_000431.4
p.C367S
c.1099T>A
1 paper
NM_000431.4
p.A374delFs
c.1121delC
1 paper
NM_000431.4
p.A374_V377delFs
c.1121_1130del10
2 papers
NM_000431.4
p.D366G
c.1097A>G
4 papers
NM_000431.4
p.A374D
c.1121C>A
5 papers
NM_000431.4
p.D366fs
c.1096_1097fs
1 paper
NM_000431.4
p.D366fs
c.1096_1097fs
10 papers
NM_000431.4
p.F365S
c.1094T>C
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