Varaico: Literature-Extracted Genetic Variants

Gene:MYLK3
Variant:p.V180L

MYLK3

122 papers

RefSeq Summary

Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in...

Pfam Domains

Pkinaseaa 515–770UCSCProtein kinase domain

Gene Aliases

HGNC Name

myosin light chain kinase 3

HGNC Alias Symbols

caMLCK; MLCK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_182493.3
p.V180L
c.538G>C
Surrounding Variants
4 papers
NM_182493.3
p.V180L
c.538G>T
1 paper
NM_182493.3
p.S178N
c.533G>A
1 paper
NM_182493.3
p.T177T
c.531C>T
1 paper
NM_182493.3
p.T177S
c.530C>G
1 paper
NM_182493.3
p.T177S
c.529A>T
1 paper
NM_182493.3
p.T177A
c.529A>G
1 paper
NM_182493.3
p.E190K
c.568G>A
1 paper
NM_182493.3
p.A194V
c.581C>T
1 paper
NM_182493.3
p.V196V
c.588G>C
1 paper
NM_182493.3
p.L204_P205insFs
c.612_613insC
1 paper
NM_182493.3
p.A214T
c.640G>A
1 paper
NM_182493.3
p.A217P
c.649G>C
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