Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.D45H

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.D45H
c.133G>C
Surrounding Variants
4 papers
NM_000432.4
p.I44M
c.132T>G
7 papers
NM_000432.4
p.I44I
c.132T>C
1 paper
NM_000432.4
p.I44_N47delFs
c.132_139del8
4 papers
NM_000432.4
p.G42D
c.125G>A
36 papers
NM_000432.4
p.N47K
c.141C>G
38 papers
NM_000432.4
p.N47K
c.141C>A
3 papers
NM_000432.4
p.D48Y
c.142G>T
2 papers
NM_000432.4
p.D48N
c.142G>A
1 paper
NM_000432.4
p.L49V
c.145C>G
6 papers
NM_000432.4
p.R40K
c.119G>A
1 paper
NM_000432.4
p.L49insFs
c.147dupG
5 papers
NM_000432.4
p.Q38R
c.113A>G
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