Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.L49insFs

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.L49insFs
c.147dupG
Surrounding Variants
1 paper
NM_000432.4
p.L49V
c.145C>G
3 papers
NM_000432.4
p.D48Y
c.142G>T
2 papers
NM_000432.4
p.D48N
c.142G>A
36 papers
NM_000432.4
p.N47K
c.141C>G
38 papers
NM_000432.4
p.N47K
c.141C>A
1 paper
NM_000432.4
p.I44_N47delFs
c.132_139del8
1 paper
NM_000432.4
p.F53V
c.157T>G
1 paper
NM_000432.4
p.A54P
c.160G>C
3 papers
NM_000432.4
p.A55S
c.163G>T
1 paper
NM_000432.4
p.D45H
c.133G>C
4 papers
NM_000432.4
p.I44M
c.132T>G
7 papers
NM_000432.4
p.I44I
c.132T>C
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