Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.A155T

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.A155T
c.463G>A
Surrounding Variants
1 paper
NM_000431.4
p.L153L
c.459G>T
1 paper
NM_000431.4
p.L153V
c.457C>G
2 papers
NM_000431.4
p.L158_T159delFs
c.473_476del4
4 papers
NM_000431.4
p.C152Y
c.455G>A
2 papers
NM_000431.4
p.C152fs
c.454_455fs
1 paper
NM_000431.4
p.T159fs
c.475_476fs
2 papers
NM_000431.4
p.T159fs
c.475_476fs
6 papers
NM_000431.4
p.V151M
c.451G>A
1 paper
NM_000431.4
p.V151L
c.451G>T
8 papers
NM_000431.4
p.C161delFs
c.481_482delTG
4 papers
NM_000431.4
p.S150L
c.449C>T
1 paper
NM_000431.4
p.S150_V151delFs
c.450_453del4
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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."