Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.R253W

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.R253W
c.757A>T
Surrounding Variants
2 papers
NM_000431.4
p.N252S
c.755A>G
1 paper
NM_000431.4
p.L254_L255insFs
c.762_763insT
10 papers
NM_000431.4
p.L255P
c.764T>C
10 papers
NM_000431.4
p.V250I
c.748G>A
1 paper
NM_000431.4
p.V250L
c.748G>C
1 paper
NM_000431.4
p.K256R
c.767A>G
2 papers
NM_000431.4
p.K256N
c.768G>C
2 papers
NM_000431.4
p.K256N
c.768G>T
1 paper
NM_000431.4
p.K256_F257Splc
c.768+4A>G
1 paper
NM_000431.4
p.V247fs
c.739_740fs
7 papers
NM_000431.4
p.L246P
c.737T>C
1 paper
NM_000431.4
p.A245fs
c.733_734fs
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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."