Varaico: Literature-Extracted Genetic Variants

Gene:MYLK2
Variant:p.D53N

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.D53N
c.157G>A
Surrounding Variants
1 paper
NM_033118.4
p.K52N
c.156A>C
1 paper
NM_033118.4
p.K52N
c.156A>T
2 papers
NM_033118.4
p.T49I
c.146C>T
1 paper
NM_033118.4
p.P57T
c.169C>A
1 paper
NM_033118.4
p.P57S
c.169C>T
3 papers
NM_033118.4
p.A58D
c.173C>A
1 paper
NM_033118.4
p.P47R
c.140C>G
4 papers
NM_033118.4
p.P45L
c.134C>T
1 paper
NM_033118.4
p.G62W
c.184G>T
1 paper
NM_033118.4
p.D63Y
c.187G>T
1 paper
NM_033118.4
p.L66V
c.196C>G
1 paper
NM_033118.4
p.P39fs
c.115_116fs
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