Varaico: Literature-Extracted Genetic Variants

Gene:MYOZ2
Variant:p.N140S

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.N140S
c.419A>G
Surrounding Variants
1 paper
NM_016599.5
p.K146N
c.438G>C
1 paper
NM_016599.5
p.K146N
c.438G>T
2 papers
NM_016599.5
p.P160L
c.479C>T
2 papers
NM_016599.5
p.E161K
c.481G>A
2 papers
NM_016599.5
p.L163S
c.488T>C
1 paper
NM_016599.5
p.K169Q
c.505A>C
1 paper
NM_016599.5
p.G126Splc
c.376+2T>A
1 paper
NM_016599.5
p.G126Splc
c.376+1G>T
1 paper
NM_016599.5
p.P120P
c.360A>G
2 papers
NM_016599.5
p.R115*
c.343C>T
1 paper
NM_016599.5
p.P109P
c.327C>A
1 paper
NM_016599.5
p.P109R
c.326C>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."