Varaico: Literature-Extracted Genetic Variants

Gene:MYOZ1

MYOZ1

41 papers

RefSeq Summary

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

Pfam Domains

Calsarcinaa 1–299UCSCCalcineurin-binding protein (Calsarcin)

Gene Aliases

HGNC Name

myozenin 1

HGNC Alias Symbols

FATZ; CS-2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
2 papers
NM_021245.4
p.K36E
c.106A>G
2 papers
NM_021245.4
p.G56A
c.167G>C
1 paper
NM_021245.4
p.M1V
c.1A>G
1 paper
NM_021245.4
p.S29R
c.85A>C
1 paper
NM_021245.4
p.S29R
c.87C>G
1 paper
NM_021245.4
p.S29R
c.87C>A
1 paper
NM_021245.4
p.N74N
c.222C>T
1 paper
NM_021245.4
p.F87F
c.261C>T
1 paper
NM_021245.4
p.Q97H
c.291G>T
1 paper
NM_021245.4
p.Q97H
c.291G>C
1 paper
NM_021245.4
p.S110C
c.328A>T
1 paper
NM_021245.4
p.G115S
c.343G>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."