Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.G11E

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.G11E
c.32G>A
Surrounding Variants
1 paper
NM_000432.4
p.G11V
c.32G>T
4 papers
NM_000432.4
p.G11R
c.31G>C
4 papers
NM_000432.4
p.G11R
c.31G>A
1 paper
NM_000432.4
p.G12C
c.34G>T
1 paper
NM_000432.4
p.G12S
c.34G>A
1 paper
NM_000432.4
p.G12V
c.35G>T
1 paper
NM_000432.4
p.G12D
c.35G>A
1 paper
NM_000432.4
p.A10D
c.29C>A
34 papers
NM_000432.4
p.A13T
c.37G>A
1 paper
NM_000432.4
p.A13A
c.39C>G
1 paper
NM_000432.4
p.K7_K8delFs
c.19_23del5
1 paper
NM_000432.4
p.S15A
c.43T>G
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