Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.V174I

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.V174I
c.520G>A
Surrounding Variants
1 paper
NM_000431.4
p.C173Y
c.518G>A
1 paper
NM_000431.4
p.N175S
c.524A>G
1 paper
NM_000431.4
p.D172N
c.514G>A
1 paper
NM_000431.4
p.R176K
c.527G>A
8 papers
NM_000431.4
p.G171R
c.511G>A
8 papers
NM_000431.4
p.G171R
c.511G>C
6 papers
NM_000431.4
p.D170D
c.510C>T
1 paper
NM_000431.4
p.D170N
c.508G>A
1 paper
NM_000431.4
p.R176Splc
c.527+10G>A
1 paper
NM_000431.4
p.L168_G171Fs
c.503_512delinsACFs
4 papers
NM_000431.4
p.L168fs
c.502_503fs
1 paper
NM_000431.4
p.L168_D170del0
c.503_508del6
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