Varaico: Literature-Extracted Genetic Variants

Gene:MYOZ2
Variant:p.R63S

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.R63S
c.189A>T
Surrounding Variants
1 paper
NM_016599.5
p.R64I
c.191G>T
1 paper
NM_016599.5
p.D66E
c.198C>A
1 paper
NM_016599.5
p.D66E
c.198C>G
1 paper
NM_016599.5
p.E71_S77del0
c.213_230del18
1 paper
NM_016599.5
p.G54D
c.161G>A
2 papers
NM_016599.5
p.R53H
c.158G>A
1 paper
NM_016599.5
p.Q74R
c.221A>G
1 paper
NM_016599.5
p.Q76E
c.226C>G
1 paper
NM_016599.5
p.L50V
c.148C>G
2 papers
NM_016599.5
p.L50F
c.148C>T
1 paper
NM_016599.5
p.H49Q
c.147T>A
1 paper
NM_016599.5
p.H49Q
c.147T>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."