Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.E121insFs

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
Selected Variant
1 paper
NM_000432.4
p.E121insFs
c.361dupG
Surrounding Variants
7 papers
NM_000432.4
p.R120Q
c.359G>A
4 papers
NM_000432.4
p.R120W
c.358C>T
1 paper
NM_000432.4
p.R120G
c.358C>G
2 papers
NM_000432.4
p.V119I
c.355G>A
1 paper
NM_000432.4
p.Y118Splc
c.354-2A>G
1 paper
NM_000432.4
p.Y118Splc
c.354-2A>C
2 papers
NM_000432.4
p.Y118Splc
c.354-3C>G
9 papers
NM_000432.4
p.T125M
c.374C>T
4 papers
NM_000432.4
p.Q126*
c.376C>T
4 papers
NM_000432.4
p.Q126E
c.376C>G
1 paper
NM_000432.4
p.Y118Splc
c.354-8C>G
2 papers
NM_000432.4
p.A127V
c.380C>T
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