Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.V353E

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.V353E
c.1058T>A
Surrounding Variants
1 paper
NM_000431.4
p.V353A
c.1058T>C
4 papers
NM_000431.4
p.V353fs
c.1057_1058fs
2 papers
NM_000431.4
p.V353_E354del1
c.1058_1060delTGG
1 paper
NM_000431.4
p.V353_E354del2
c.1057_1061del6
5 papers
NM_000431.4
p.E354D
c.1062G>C
5 papers
NM_000431.4
p.E354D
c.1062G>T
1 paper
NM_000431.4
p.E352insFs
c.1054dupG
4 papers
NM_000431.4
p.V353_K357delFs
c.1058_1071del14
1 paper
NM_000431.4
p.Q350P
c.1049A>C
5 papers
NM_000431.4
p.T356R
c.1067C>G
7 papers
NM_000431.4
p.T356M
c.1067C>T
1 paper
NM_000431.4
p.K357fs
c.1069_1070fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."