Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.G340R

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.G340R
c.1018G>C
Surrounding Variants
1 paper
NM_000431.4
p.G340_L344del5
c.1018_1031del15
2 papers
NM_000431.4
p.C339S
c.1016G>C
2 papers
NM_000431.4
p.C339S
c.1015T>A
1 paper
NM_000431.4
p.I341T
c.1022T>C
4 papers
NM_000431.4
p.G338D
c.1013G>A
4 papers
NM_000431.4
p.T342A
c.1024A>G
6 papers
NM_000431.4
p.G338S
c.1012G>A
2 papers
NM_000431.4
p.T342I
c.1025C>T
1 paper
NM_000431.4
p.L343F
c.1027C>T
9 papers
NM_000431.4
p.L343P
c.1028T>C
23 papers
NM_000431.4
p.G336S
c.1006G>A
11 papers
NM_000431.4
p.G335D
c.1004G>A
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