Varaico: Literature-Extracted Genetic Variants

Gene:MYOZ3

MYOZ3

42 papers

RefSeq Summary

The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tet...

Pfam Domains

Calsarcinaa 1–250UCSCCalcineurin-binding protein (Calsarcin)

Gene Aliases

HGNC Name

myozenin 3

HGNC Alias Symbols

CS-3; CS3; FRP3; FATZ-3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
1 paper
NM_001122853.3
p.K4*
c.10A>T
1 paper
NM_001122853.3
p.K4K
c.12G>A
1 paper
NM_001122853.3
p.K7Q
c.19A>C
1 paper
NM_001122853.3
p.K7*
c.19A>T
1 paper
NM_001122853.3
p.G8R
c.22G>A
1 paper
NM_001122853.3
p.A12T
c.34G>A
1 paper
NM_001122853.3
p.T18N
c.53C>A
1 paper
NM_001122853.3
p.S42L
c.125C>T
1 paper
NM_001122853.3
p.N45ins7
c.133_134ins21
1 paper
NM_001122853.3
p.N45ins7
c.134_135ins21
1 paper
NM_001122853.3
p.G96D
c.287G>A
1 paper
NM_001122853.3
p.E121K
c.361G>A
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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."