Varaico: Literature-Extracted Genetic Variants

Gene:MYLK3
Variant:p.S510P

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
2 papers
NM_182493.3
p.S510P
c.1528T>C
Surrounding Variants
1 paper
NM_182493.3
p.Y513Y
c.1539C>T
1 paper
NM_182493.3
p.H518H
c.1554C>T
1 paper
NM_182493.3
p.V501I
c.1501G>A
1 paper
NM_182493.3
p.R500Q
c.1499G>A
1 paper
NM_182493.3
p.P491L
c.1472C>T
1 paper
NM_182493.3
p.P491T
c.1471C>A
1 paper
NM_182493.3
p.R554Q
c.1661G>A
1 paper
NM_182493.3
p.V485M
c.1453G>A
1 paper
NM_182493.3
p.A482T
c.1444G>A
1 paper
NM_182493.3
p.E481K
c.1441G>A
1 paper
NM_182493.3
p.L587V
c.1759C>G
1 paper
NM_182493.3
p.M589I
c.1767G>T
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