Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.N166K

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.N166K
c.498C>G
Surrounding Variants
2 papers
NM_000431.4
p.N166K
c.498C>A
1 paper
NM_000431.4
p.N166I
c.497A>T
34 papers
NM_000431.4
p.P167L
c.500C>T
2 papers
NM_000431.4
p.P167P
c.501G>C
4 papers
NM_000431.4
p.L168fs
c.502_503fs
12 papers
NM_000431.4
p.P165L
c.494C>T
1 paper
NM_000431.4
p.L168_D170del0
c.503_508del6
1 paper
NM_000431.4
p.L168_G171Fs
c.503_512delinsACFs
1 paper
NM_000431.4
p.D170N
c.508G>A
1 paper
NM_000431.4
p.E163_I164delFs
c.488_491del4
6 papers
NM_000431.4
p.D170D
c.510C>T
1 paper
NM_000431.4
p.E162G
c.485A>G
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