Varaico: Literature-Extracted Genetic Variants

Gene:MYLK2
Variant:p.G33R

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.G33R
c.97G>C
Surrounding Variants
1 paper
NM_033118.4
p.G33R
c.97G>A
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
1 paper
NM_033118.4
p.A31P
c.91G>C
1 paper
NM_033118.4
p.G37delFs
c.111delC
1 paper
NM_033118.4
p.P39fs
c.115_116fs
1 paper
NM_033118.4
p.G26D
c.77G>A
4 papers
NM_033118.4
p.P45L
c.134C>T
1 paper
NM_033118.4
p.P47R
c.140C>G
2 papers
NM_033118.4
p.T49I
c.146C>T
1 paper
NM_033118.4
p.K52N
c.156A>C
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