Varaico: Literature-Extracted Genetic Variants

Gene:MYOZ2
Variant:p.K35K

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.K35K
c.105G>A
Surrounding Variants
2 papers
NM_016599.5
p.G33R
c.97G>C
1 paper
NM_016599.5
p.D41A
c.122A>C
1 paper
NM_016599.5
p.M43_L44insFs
c.129_130insT
1 paper
NM_016599.5
p.E45A
c.134A>C
11 papers
NM_016599.5
p.S48P
c.142T>C
1 paper
NM_016599.5
p.H49Q
c.147T>A
1 paper
NM_016599.5
p.H49Q
c.147T>G
1 paper
NM_016599.5
p.L50V
c.148C>G
2 papers
NM_016599.5
p.L50F
c.148C>T
2 papers
NM_016599.5
p.R53H
c.158G>A
1 paper
NM_016599.5
p.G54D
c.161G>A
1 paper
NM_016599.5
p.R63S
c.189A>T
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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."