Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.I379N

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
2 papers
NM_000431.4
p.I379N
c.1136T>A
Surrounding Variants
13 papers
NM_000431.4
p.H380R
c.1139A>G
10 papers
NM_000431.4
p.S378P
c.1132T>C
2 papers
NM_000431.4
p.A382_T383del2
c.1144_1148del6
271 papers
NM_000431.4
p.V377I
c.1129G>A
2 papers
NM_000431.4
p.A382P
c.1144G>C
8 papers
NM_000431.4
p.G376V
c.1127G>T
1 paper
NM_000431.4
p.A382A
c.1146C>G
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
1 paper
NM_000431.4
p.S384P
c.1150T>C
4 papers
NM_000431.4
p.A374D
c.1121C>A
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