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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYOZ2

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 69 variants

12 papers

chr4:119186143 A>G

NM_016599.5

p.I246M

c.738A>G

Calsarcin

Exome: 0.1% (AC=1443, hom=14)Genome: 0.2% (AC=307, hom=4)100 overlapping SVs

11 papers

chr4:119150937 T>C

NM_016599.5

p.S48P

c.142T>C

Calsarcin

exact variant not in gnomAD101 overlapping SVs

6 papers

chr4:119136554 A>C

NM_016599.5

p.Q10P

c.29A>C

Calsarcin

Exome: 0.1% (AC=1540, hom=28)Genome: 0.1% (AC=190, hom=6)103 overlapping SVs

4 papers

chr4:119186093 C>T

NM_016599.5

p.R230W

c.688C>T

Calsarcin

Exome: 0.0% (AC=268, hom=3)Genome: 0.0% (AC=47, hom=0)100 overlapping SVs

3 papers

chr4:119186079 C>T

NM_016599.5

p.P225L

c.674C>T

Calsarcin

Exome: 0.0% (AC=203, hom=0)Genome: 0.0% (AC=5, hom=0)100 overlapping SVs

2 papers

chr4:119150892 G>C

NM_016599.5

p.G33R

c.97G>C

Calsarcin

exact variant not in gnomAD101 overlapping SVs

2 papers

chr4:119150943 C>T

NM_016599.5

p.L50F

c.148C>T

Calsarcin

Exome: 0.0% (AC=3, hom=0)Genome: n/a101 overlapping SVs

2 papers

chr4:119150953 G>A

NM_016599.5

p.R53H

c.158G>A

Calsarcin

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=1, hom=0)101 overlapping SVs

2 papers

chr4:119158118 C>T

NM_016599.5

p.R115*

c.343C>T

Calsarcin

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=3, hom=0)101 overlapping SVs

2 papers

chr4:119164313 C>T

NM_016599.5

p.P160L

c.479C>T

Calsarcin

Exome: 0.0% (AC=134, hom=0)Genome: 0.0% (AC=11, hom=0)101 overlapping SVs

2 papers

chr4:119164315 G>A

NM_016599.5

p.E161K

c.481G>A

Calsarcin

exact variant not in gnomAD101 overlapping SVs

2 papers

chr4:119164322 T>C

NM_016599.5

p.L163S

c.488T>C

Calsarcin

Exome: 0.0% (AC=52, hom=0)Genome: 0.1% (AC=81, hom=0)101 overlapping SVs

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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."