Varaico: Literature-Extracted Genetic Variants

Gene:MYLK2
Variant:p.L520H

MYLK2

156 papers

RefSeq Summary

This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008].

Pfam Domains

Pkinaseaa 285–540UCSCProtein kinase domain

Gene Aliases

HGNC Name

myosin light chain kinase 2

HGNC Alias Symbols

skMLCK; KMLC; MLCK2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033118.4
p.L520H
c.1559T>A
Surrounding Variants
1 paper
NM_033118.4
p.L520V
c.1558C>G
3 papers
NM_033118.4
p.V522I
c.1564G>A
1 paper
NM_033118.4
p.Q525R
c.1574A>G
2 papers
NM_033118.4
p.R526Splc
c.1577+1G>A
2 papers
NM_033118.4
p.E512Q
c.1534G>C
1 paper
NM_033118.4
p.S510L
c.1529C>T
1 paper
NM_033118.4
p.T505N
c.1514C>A
1 paper
NM_033118.4
p.Y500C
c.1499A>G
1 paper
NM_033118.4
p.W499*
c.1497G>A
1 paper
NM_033118.4
p.W499*
c.1496G>A
1 paper
NM_033118.4
p.W499R
c.1495T>A
1 paper
NM_033118.4
p.W499R
c.1495T>C
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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."