Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.S272P

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.S272P
c.814T>C
Surrounding Variants
10 papers
NM_000431.4
p.S272F
c.815C>T
4 papers
NM_000431.4
p.D269H
c.805G>C
134 papers
NM_000431.4
p.I268T
c.803T>C
1 paper
NM_000431.4
p.E276_M282del7
c.826_845del21
4 papers
NM_000431.4
p.I268V
c.802A>G
1 paper
NM_000431.4
p.S267L
c.800C>T
5 papers
NM_000431.4
p.R277G
c.829C>G
18 papers
NM_000431.4
p.R277C
c.829C>T
10 papers
NM_000431.4
p.R277H
c.830G>A
1 paper
NM_000431.4
p.R277R
c.831C>T
1 paper
NM_000431.4
p.T266P
c.796A>C
1 paper
NM_000431.4
p.V278M
c.832G>A
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