Varaico: Literature-Extracted Genetic Variants

Gene:MYL12B

MYL12B

29 papers

RefSeq Summary

The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the ...

Pfam Domains

EF-hand_7aa 31–78UCSCEF-hand domain pair
EF-hand_11aa 96–168UCSCEF-hand domain

Gene Aliases

HGNC Name

myosin light chain 12B

HGNC Alias Symbol

MRLC2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
2 papers
NM_033546.4
p.Q43E
c.127C>G
2 papers
NM_033546.4
p.F110L
c.328T>C
2 papers
NM_033546.4
p.F110L
c.330T>A
2 papers
NM_033546.4
p.F110L
c.330T>G
1 paper
NM_033546.4
p.S2L
c.5C>T
1 paper
NM_033546.4
p.K5*
c.13A>T
1 paper
NM_033546.4
p.A18E
c.53C>A
1 paper
NM_033546.4
p.T19A
c.55A>G
1 paper
NM_033546.4
p.T19I
c.56C>T
1 paper
NM_033546.4
p.T19T
c.57A>G
1 paper
NM_033546.4
p.Q30L
c.89A>T
1 paper
NM_033546.4
p.Q32R
c.95A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."