Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.G347R

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
7 papers
NM_000431.4
p.G347R
c.1039G>C
Surrounding Variants
5 papers
NM_000431.4
p.G347R
c.1039G>A
3 papers
NM_000431.4
p.G347Splc
c.1039+1G>A
1 paper
NM_000431.4
p.G347Splc
c.1039+1G>T
1 paper
NM_000431.4
p.P346L
c.1037C>T
11 papers
NM_000431.4
p.G347Splc
c.1039+2T>C
1 paper
NM_000431.4
p.K345R
c.1034A>G
9 papers
NM_000431.4
p.L343P
c.1028T>C
1 paper
NM_000431.4
p.L343F
c.1027C>T
2 papers
NM_000431.4
p.T342I
c.1025C>T
4 papers
NM_000431.4
p.T342A
c.1024A>G
1 paper
NM_000431.4
p.I341T
c.1022T>C
1 paper
NM_000431.4
p.G340R
c.1018G>C
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