Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.R58Q

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
93 papers
NM_000432.4
p.R58Q
c.173G>A
Surrounding Variants
3 papers
NM_000432.4
p.R58L
c.173G>T
1 paper
NM_000432.4
p.R58P
c.173G>C
3 papers
NM_000432.4
p.R58*
c.172C>T
11 papers
NM_000432.4
p.G57E
c.170G>A
1 paper
NM_000432.4
p.G57R
c.169G>C
1 paper
NM_000432.4
p.G57R
c.169G>A
1 paper
NM_000432.4
p.N60T
c.179A>C
1 paper
NM_000432.4
p.N60K
c.180C>G
1 paper
NM_000432.4
p.N60K
c.180C>A
4 papers
NM_000432.4
p.K62*
c.184A>T
2 papers
NM_000432.4
p.N63fs
c.187_188fs
1 paper
NM_000432.4
p.N63fs
c.187_188fs
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