Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.N16Y

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.N16Y
c.46A>T
Surrounding Variants
1 paper
NM_000432.4
p.N16fs
c.46_47fs
1 paper
NM_000432.4
p.N16_V17insCT
c.46_50ins6
2 papers
NM_000432.4
p.S15_N16Fs
c.45_46delinsTFs
1 paper
NM_000432.4
p.G11_S15del5
c.31_44del15
1 paper
NM_000432.4
p.N16fs
c.46_47fs
1 paper
NM_000432.4
p.N16insFs
c.46dupA
1 paper
NM_000432.4
p.S15A
c.43T>G
6 papers
NM_000432.4
p.V17M
c.49G>A
1 paper
NM_000432.4
p.F18V
c.52T>G
18 papers
NM_000432.4
p.F18L
c.52T>C
1 paper
NM_000432.4
p.F18I
c.52T>A
1 paper
NM_000432.4
p.F18fs
c.52_53fs
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