Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.D170D

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
6 papers
NM_000431.4
p.D170D
c.510C>T
Surrounding Variants
8 papers
NM_000431.4
p.G171R
c.511G>A
8 papers
NM_000431.4
p.G171R
c.511G>C
1 paper
NM_000431.4
p.D170N
c.508G>A
1 paper
NM_000431.4
p.D172N
c.514G>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
1 paper
NM_000431.4
p.C173Y
c.518G>A
2 papers
NM_000431.4
p.P167P
c.501G>C
34 papers
NM_000431.4
p.P167L
c.500C>T
1 paper
NM_000431.4
p.V174I
c.520G>A
2 papers
NM_000431.4
p.N166K
c.498C>A
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