Varaico: Literature-Extracted Genetic Variants

Gene:MYLK2
Variant:p.A2T

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
9 papers
NM_033118.4
p.A2T
c.4G>A
Surrounding Variants
1 paper
NM_033118.4
p.A2insFs
c.4dupG
1 paper
NM_033118.4
p.M1V
c.1A>G
1 paper
NM_033118.4
p.E4V
c.11A>T
1 paper
NM_033118.4
p.T17K
c.50C>A
1 paper
NM_033118.4
p.D18H
c.52G>C
1 paper
NM_033118.4
p.G26D
c.77G>A
1 paper
NM_033118.4
p.A31P
c.91G>C
1 paper
NM_033118.4
p.G33R
c.97G>A
1 paper
NM_033118.4
p.G33R
c.97G>C
1 paper
NM_033118.4
p.G33V
c.98G>T
1 paper
NM_033118.4
p.K34R
c.101A>G
1 paper
NM_033118.4
p.K34K
c.102A>G
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