Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.Q25E

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.Q25E
c.73C>G
Surrounding Variants
1 paper
NM_000432.4
p.E22_T24delFs
c.66_70del5
1 paper
NM_000432.4
p.S19_Q23del5
c.55_68del15
1 paper
NM_000432.4
p.E22D
c.66A>T
4 papers
NM_000432.4
p.Q27R
c.80A>G
1 paper
NM_000432.4
p.E22D
c.66A>C
1 paper
NM_000432.4
p.E22V
c.65A>T
1 paper
NM_000432.4
p.E22G
c.65A>G
1 paper
NM_000432.4
p.E22A
c.65A>C
2 papers
NM_000432.4
p.E22*
c.64G>T
1 paper
NM_000432.4
p.E22Q
c.64G>C
67 papers
NM_000432.4
p.E22K
c.64G>A
1 paper
NM_000432.4
p.E28K
c.82G>A
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