Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.M85T

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
2 papers
NM_000432.4
p.M85T
c.254T>C
Surrounding Variants
1 paper
NM_000432.4
p.L83_M85del0
c.248_253del6
1 paper
NM_000432.4
p.F86L
c.256T>C
4 papers
NM_000432.4
p.F86S
c.257T>C
1 paper
NM_000432.4
p.F86L
c.258T>G
1 paper
NM_000432.4
p.F86L
c.258T>A
2 papers
NM_000432.4
p.G87R
c.259G>C
2 papers
NM_000432.4
p.G87R
c.259G>A
1 paper
NM_000432.4
p.G87V
c.260G>T
7 papers
NM_000432.4
p.G87A
c.260G>C
2 papers
NM_000432.4
p.G87E
c.260G>A
1 paper
NM_000432.4
p.L83F
c.247C>T
3 papers
NM_000432.4
p.E88K
c.262G>A
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