Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.G148R

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.G148R
c.442G>C
Surrounding Variants
1 paper
NM_000432.4
p.G148S
c.442G>A
2 papers
NM_000432.4
p.V146M
c.436G>A
1 paper
NM_000432.4
p.L150W
c.449T>G
1 paper
NM_000432.4
p.L150S
c.449T>C
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.L150F
c.450G>T
2 papers
NM_000432.4
p.L150F
c.450G>C
2 papers
NM_000432.4
p.D145N
c.433G>A
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
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