Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.D145N

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.D145N
c.433G>A
Surrounding Variants
4 papers
NM_000432.4
p.P144delFs
c.432delA
5 papers
NM_000432.4
p.P144delFs
c.431_432delAG
1 paper
NM_000432.4
p.D145fs
c.433_434fs
3 papers
NM_000432.4
p.P144fs
c.430_431fs
10 papers
NM_000432.4
p.P144delFs
c.431delG
3 papers
NM_000432.4
p.D145E
c.435C>G
3 papers
NM_000432.4
p.D145E
c.435C>A
2 papers
NM_000432.4
p.P144H
c.431C>A
7 papers
NM_000432.4
p.P144fs
c.430_431fs
2 papers
NM_000432.4
p.V146M
c.436G>A
1 paper
NM_000432.4
p.P144S
c.430C>T
1 paper
NM_000432.4
p.P144A
c.430C>G
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