Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.E68D

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.E68D
c.204A>T
Surrounding Variants
6 papers
NM_000432.4
p.M69T
c.206T>C
1 paper
NM_000432.4
p.E68K
c.202G>A
1 paper
NM_000432.4
p.M69I
c.207G>T
1 paper
NM_000432.4
p.M69I
c.207G>C
1 paper
NM_000432.4
p.M69I
c.207G>A
1 paper
NM_000432.4
p.D67H
c.199G>C
1 paper
NM_000432.4
p.I66F
c.196A>T
1 paper
NM_000432.4
p.I66_I70del5
c.196_209del15
1 paper
NM_000432.4
p.E65del1
c.193_194delTTC
5 papers
NM_000432.4
p.E65K
c.193G>A
1 paper
NM_000432.4
p.E64D
c.192A>T
1 paper
NM_000432.4
p.E64D
c.192A>C
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