Varaico: Literature-Extracted Genetic Variants

Gene:MYLK2
Variant:p.K109N

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.K109N
c.327G>C
Surrounding Variants
1 paper
NM_033118.4
p.K109N
c.327G>T
2 papers
NM_033118.4
p.P111S
c.331C>T
1 paper
NM_033118.4
p.A117V
c.350C>T
1 paper
NM_033118.4
p.Q100H
c.300G>C
1 paper
NM_033118.4
p.Q100H
c.300G>T
1 paper
NM_033118.4
p.P98L
c.293C>T
2 papers
NM_033118.4
p.P98S
c.292C>T
8 papers
NM_033118.4
p.A95E
c.284C>A
3 papers
NM_033118.4
p.P94L
c.281C>T
2 papers
NM_033118.4
p.P93T
c.277C>A
3 papers
NM_033118.4
p.G89D
c.266G>A
1 paper
NM_033118.4
p.G89V
c.266G>T
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