Varaico: Literature-Extracted Genetic Variants

Gene:MYL2

MYL2

416 papers

RefSeq Summary

This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded prote...

Pfam Domains

EF-hand_7aa 7–67UCSCEF-hand domain pair

Gene Aliases

HGNC Name

myosin light chain 2

HGNC Alias Symbol

CMH10

Papers
RefSeq ID
Protein change
DNA change
1–12 of 281 variants
93 papers
NM_000432.4
p.R58Q
c.173G>A
67 papers
NM_000432.4
p.E22K
c.64G>A
38 papers
NM_000432.4
p.N47K
c.141C>A
37 papers
NM_000432.4
p.E134A
c.401A>C
36 papers
NM_000432.4
p.N47K
c.141C>G
34 papers
NM_000432.4
p.A13T
c.37G>A
32 papers
NM_000432.4
p.D166V
c.497A>T
23 papers
NM_000432.4
p.K5*
c.13A>T
22 papers
NM_000432.4
p.E134_V135Splc
c.403-1G>C
21 papers
NM_000432.4
p.G162R
c.484G>A
20 papers
NM_000432.4
p.G162R
c.484G>C
18 papers
NM_000432.4
p.F18L
c.52T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."