Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.D166A

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
5 papers
NM_000432.4
p.D166A
c.497A>C
Surrounding Variants
32 papers
NM_000432.4
p.D166V
c.497A>T
3 papers
NM_000432.4
p.D166H
c.496G>C
2 papers
NM_000432.4
p.D166N
c.496G>A
6 papers
NM_000432.4
p.*167Q
c.499T>C
1 paper
NM_000432.4
p.E163V
c.488A>T
2 papers
NM_000432.4
p.E163G
c.488A>G
3 papers
NM_000432.4
p.G162_E163del1
c.485_487delCTC
1 paper
NM_000432.4
p.E163Q
c.487G>C
3 papers
NM_000432.4
p.E163K
c.487G>A
7 papers
NM_000432.4
p.G162E
c.485G>A
20 papers
NM_000432.4
p.G162R
c.484G>C
21 papers
NM_000432.4
p.G162R
c.484G>A
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