Varaico: Literature-Extracted Genetic Variants

Gene:MYOZ2
Variant:p.P120P

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.P120P
c.360A>G
Surrounding Variants
2 papers
NM_016599.5
p.R115*
c.343C>T
1 paper
NM_016599.5
p.G126Splc
c.376+1G>T
1 paper
NM_016599.5
p.G126Splc
c.376+2T>A
1 paper
NM_016599.5
p.P109P
c.327C>A
1 paper
NM_016599.5
p.P109R
c.326C>G
1 paper
NM_016599.5
p.P105S
c.313C>T
1 paper
NM_016599.5
p.A104V
c.311C>T
1 paper
NM_016599.5
p.E98Q
c.292G>C
1 paper
NM_016599.5
p.V92E
c.275T>A
1 paper
NM_016599.5
p.K91I
c.272A>T
1 paper
NM_016599.5
p.K91E
c.271A>G
1 paper
NM_016599.5
p.A86D
c.257C>A
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