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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYOZ2

Variant:p.Q10L

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

Selected Variant

1 paper

chr4:119136554 A>T

NM_016599.5

p.Q10L

c.29A>T

Calsarcin

exact variant not in gnomAD103 overlapping SVs

Surrounding Variants

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

1 paper

chr4:119136554 A>G

NM_016599.5

p.Q10R

c.29A>G

Calsarcin

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=2, hom=0)103 overlapping SVs

1 paper

chr4:119136561 A>C

NM_016599.5

p.K12N

c.36A>C

Calsarcin

Exome: 0.0% (AC=12, hom=0)Genome: n/a103 overlapping SVs

1 paper

chr4:119136561 A>T

NM_016599.5

p.K12N

c.36A>T

Calsarcin

exact variant not in gnomAD103 overlapping SVs

1 paper

chr4:119136544 A>G

NM_016599.5

p.M7V

c.19A>G

Calsarcin

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=4, hom=0)103 overlapping SVs

1 paper

chr4:119136570 A>G

NM_016599.5

p.A15A

c.45A>G

Calsarcin

exact variant not in gnomAD103 overlapping SVs

1 paper

chr4:119136536 A>T

NM_016599.5

p.H4L

c.11A>T

Calsarcin

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=4, hom=0)103 overlapping SVs

1 paper

chr4:119136528 G>GC

NM_016599.5

p.L2insFs

c.4dupC

Calsarcin

exact variant not in gnomAD103 overlapping SVs

1 paper

chr4:119136526 A>G

NM_016599.5

p.M1V

c.1A>G

Calsarcin

exact variant not in gnomAD103 overlapping SVs

1 paper

chr4:119136611 A>G

NM_016599.5

p.D26Splc

c.76+10A>G

Exome: 0.0% (AC=351, hom=0)Genome: 0.0% (AC=20, hom=0)103 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."