Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.V132fs

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
7 papers
NM_000431.4
p.V132fs
c.394_395fs
Surrounding Variants
11 papers
NM_000431.4
p.V132I
c.394G>A
9 papers
NM_000431.4
p.V132delFs
c.395delT
1 paper
NM_000431.4
p.D130G
c.389A>G
2 papers
NM_000431.4
p.D130fs
c.388_389fs
2 papers
NM_000431.4
p.D130_I131Fs
c.388_392delinsCFs
3 papers
NM_000431.4
p.W134*
c.401G>A
2 papers
NM_000431.4
p.D130_V132del0
c.389_394del6
3 papers
NM_000431.4
p.W134*
c.402G>A
1 paper
NM_000431.4
p.S128R
c.384C>A
1 paper
NM_000431.4
p.S128R
c.384C>G
20 papers
NM_000431.4
p.S135L
c.404C>T
1 paper
NM_000431.4
p.L129_D130del2
c.385_389del6
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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."