Varaico: Literature-Extracted Genetic Variants

Gene:MYOZ2
Variant:p.K205*

MYOZ2

100 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These famil...

Pfam Domains

Calsarcinaa 1–264UCSCCalcineurin-binding protein (Calsarcin)

Gene Aliases

HGNC Name

myozenin 2

HGNC Alias Symbols

CS-1; FATZ-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016599.5
p.K205*
c.613A>T
Surrounding Variants
2 papers
NM_016599.5
p.P217T
c.649C>A
1 paper
NM_016599.5
p.M220insFs
c.659_660insA
1 paper
NM_016599.5
p.A189T
c.565G>A
1 paper
NM_016599.5
p.V223I
c.667G>A
1 paper
NM_016599.5
p.R187Splc
c.561-5C>T
3 papers
NM_016599.5
p.P225L
c.674C>T
1 paper
NM_016599.5
p.P225P
c.675C>G
1 paper
NM_016599.5
p.S227C
c.680C>G
4 papers
NM_016599.5
p.R230W
c.688C>T
1 paper
NM_016599.5
p.S231A
c.691T>G
1 paper
NM_016599.5
p.G238V
c.713G>T
12 papers
NM_016599.5
p.I246M
c.738A>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."