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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP3CC

Variant:p.L205S

PPP3CC

40 papers

RefSeq Summary

Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit...

Pfam Domains

Metallophosaa 79–281UCSCCalcineurin-like phosphoesterase

Gene Aliases

HGNC Name

protein phosphatase 3 catalytic subunit gamma

HGNC Alias Symbols

CALNA3; PP2Bgamma

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:22511215 T>C

NM_005605.5

p.L205S

c.614T>C

Metallophos

Exome: n/aGenome: 0.0% (AC=1, hom=0)16 overlapping SVs

Surrounding Variants

1 paper

chr8:22511175 CTC>N

NM_005605.5

p.L192fs

c.574_575fs

Metallophos

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:22511146 C>A

NM_005605.5

p.P182H

c.545C>A

Metallophos

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:22511145 C>T

NM_005605.5

p.P182S

c.544C>T

Metallophos

Exome: 0.0% (AC=2, hom=0)Genome: n/a16 overlapping SVs

2 papers

chr8:22511089 G>A

NM_005605.5

p.R163Q

c.488G>A

Metallophos

Exome: 0.1% (AC=931, hom=10)Genome: 0.6% (AC=959, hom=13)16 overlapping SVs

1 paper

chr8:22513318 C>T

NM_005605.5

p.A219V

c.656C>T

Metallophos

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:22513374 G>A

NM_005605.5

p.E238K

c.712G>A

Metallophos

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:22513411 G>A

NM_005605.5

p.R250Q

c.749G>A

Metallophos

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=3, hom=0)16 overlapping SVs

1 paper

chr8:22513430 C>T

NM_005605.5

p.Y256Y

c.768C>T

Metallophos

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)16 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."