Varaico: Literature-Extracted Genetic Variants

Gene:MYL12B
Variant:p.F110L

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
Selected Variant
2 papers
NM_033546.4
p.F110L
c.330T>A
Surrounding Variants
2 papers
NM_033546.4
p.F110L
c.330T>G
2 papers
NM_033546.4
p.F110L
c.328T>C
1 paper
NM_033546.4
p.A108V
c.323C>T
1 paper
NM_033546.4
p.G116V
c.347G>T
1 paper
NM_033546.4
p.T88I
c.263C>T
1 paper
NM_033546.4
p.A72T
c.214G>A
1 paper
NM_033546.4
p.T117A
c.349A>G
1 paper
NM_033546.4
p.H165R
c.494A>G
1 paper
NM_033546.4
p.A167A
c.501C>A
1 paper
NM_033546.4
p.D171Y
c.511G>T
1 paper
NM_033546.4
p.S60F
c.179C>T
1 paper
NM_033546.4
p.A59V
c.176C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."