Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.P143L

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
5 papers
NM_000432.4
p.P143L
c.428C>T
Surrounding Variants
2 papers
NM_000432.4
p.P143S
c.427C>T
1 paper
NM_000432.4
p.P143T
c.427C>A
7 papers
NM_000432.4
p.P144fs
c.430_431fs
1 paper
NM_000432.4
p.P144S
c.430C>T
2 papers
NM_000432.4
p.F142L
c.426C>G
1 paper
NM_000432.4
p.P144A
c.430C>G
2 papers
NM_000432.4
p.P144T
c.430C>A
2 papers
NM_000432.4
p.F142L
c.426C>A
2 papers
NM_000432.4
p.P144H
c.431C>A
3 papers
NM_000432.4
p.P144fs
c.430_431fs
2 papers
NM_000432.4
p.F142L
c.424T>C
10 papers
NM_000432.4
p.P144delFs
c.431delG
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