Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.E352insFs

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.E352insFs
c.1054dupG
Surrounding Variants
4 papers
NM_000431.4
p.V353_K357delFs
c.1058_1071del14
2 papers
NM_000431.4
p.V353_E354del1
c.1058_1060delTGG
1 paper
NM_000431.4
p.V353_E354del2
c.1057_1061del6
1 paper
NM_000431.4
p.Q350P
c.1049A>C
4 papers
NM_000431.4
p.V353fs
c.1057_1058fs
1 paper
NM_000431.4
p.V353E
c.1058T>A
1 paper
NM_000431.4
p.V353A
c.1058T>C
5 papers
NM_000431.4
p.E354D
c.1062G>C
5 papers
NM_000431.4
p.E354D
c.1062G>T
6 papers
NM_000431.4
p.L348fs
c.1042_1043fs
1 paper
NM_000431.4
p.G347fs
c.1039_1040fs
5 papers
NM_000431.4
p.T356R
c.1067C>G
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