Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.H161Q

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.H161Q
c.483C>A
Surrounding Variants
1 paper
NM_000432.4
p.H161Q
c.483C>G
20 papers
NM_000432.4
p.G162R
c.484G>C
21 papers
NM_000432.4
p.G162R
c.484G>A
6 papers
NM_000432.4
p.H161R
c.482A>G
7 papers
NM_000432.4
p.G162E
c.485G>A
1 paper
NM_000432.4
p.H161Y
c.481C>T
1 paper
NM_000432.4
p.E163Q
c.487G>C
3 papers
NM_000432.4
p.E163K
c.487G>A
1 paper
NM_000432.4
p.T160S
c.479C>G
1 paper
NM_000432.4
p.E163V
c.488A>T
1 paper
NM_000432.4
p.T160S
c.478A>T
2 papers
NM_000432.4
p.E163G
c.488A>G
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