Varaico: Literature-Extracted Genetic Variants

Gene:MYLK2
Variant:p.K324E

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
5 papers
NM_033118.4
p.K324E
c.970A>G
Surrounding Variants
1 paper
NM_033118.4
p.K324_E325Splc
c.972+14G>A
1 paper
NM_033118.4
p.K317N
c.951G>C
1 paper
NM_033118.4
p.K317N
c.951G>T
1 paper
NM_033118.4
p.V315A
c.944T>C
1 paper
NM_033118.4
p.A313D
c.938C>A
1 paper
NM_033118.4
p.L291H
c.872T>A
1 paper
NM_033118.4
p.A290T
c.868G>A
1 paper
NM_033118.4
p.K288fs
c.862_863fs
1 paper
NM_033118.4
p.S287delFs
c.861delC
1 paper
NM_033118.4
p.G277R
c.829G>A
1 paper
NM_033118.4
p.G277R
c.829G>C
1 paper
NM_033118.4
p.L274P
c.821T>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."