Varaico: Literature-Extracted Genetic Variants

Gene:MYLK2

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
1–12 of 162 variants
9 papers
NM_033118.4
p.A2T
c.4G>A
8 papers
NM_033118.4
p.A95E
c.284C>A
7 papers
NM_033118.4
p.A87V
c.260C>T
5 papers
NM_033118.4
p.K324E
c.970A>G
4 papers
NM_033118.4
p.P45L
c.134C>T
3 papers
NM_033118.4
p.A58D
c.173C>A
3 papers
NM_033118.4
p.A87T
c.259G>A
3 papers
NM_033118.4
p.G89D
c.266G>A
3 papers
NM_033118.4
p.P94L
c.281C>T
3 papers
NM_033118.4
p.P144A
c.430C>G
3 papers
NM_033118.4
p.V522I
c.1564G>A
2 papers
NM_033118.4
p.T49I
c.146C>T
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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."