Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.L70Q

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
8 papers
NM_000431.4
p.L70Q
c.209T>A
Surrounding Variants
1 paper
NM_000431.4
p.L70P
c.209T>C
1 paper
NM_000431.4
p.D71del1
c.211_212delGAC
1 paper
NM_000431.4
p.S69S
c.207A>T
14 papers
NM_000431.4
p.D71N
c.211G>A
5 papers
NM_000431.4
p.S69T
c.205T>A
1 paper
NM_000431.4
p.S69fs
c.205_206fs
1 paper
NM_000431.4
p.S69delFs
c.206_207delCA
1 paper
NM_000431.4
p.T72_S73insT
c.214_218ins3
1 paper
NM_000431.4
p.T72K
c.215C>A
10 papers
NM_000431.4
p.L67P
c.200T>C
1 paper
NM_000431.4
p.F74L
c.220T>C
1 paper
NM_000431.4
p.R66W
c.196A>T
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