Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.F18L

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
18 papers
NM_000432.4
p.F18L
c.54C>G
Surrounding Variants
1 paper
NM_000432.4
p.F18insFs
c.53dupT
18 papers
NM_000432.4
p.F18L
c.54C>A
1 paper
NM_000432.4
p.F18C
c.53T>G
2 papers
NM_000432.4
p.F18S
c.53T>C
1 paper
NM_000432.4
p.F18Y
c.53T>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
9 papers
NM_000432.4
p.M20L
c.58A>T
1 paper
NM_000432.4
p.M20V
c.58A>G
10 papers
NM_000432.4
p.M20L
c.58A>C
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