Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A
Variant:p.D459G

PPP1R3A

171 papers

RefSeq Summary

The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene...

Pfam Domains

CBM_21aa 122–230UCSCCarbohydrate/starch-binding module (family 21)

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 3A

HGNC Previous Names

protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle); protein phosphatase 1, regulatory (inhibitor) subunit 3A; protein phosphatase 1, regulatory subunit 3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002711.4
p.D459G
c.1376A>G
Surrounding Variants
1 paper
NM_002711.4
p.D459H
c.1375G>C
1 paper
NM_002711.4
p.Q460*
c.1378C>T
1 paper
NM_002711.4
p.Q460K
c.1378C>A
1 paper
NM_002711.4
p.P454T
c.1360C>A
1 paper
NM_002711.4
p.K469fs
c.1405_1406fs
1 paper
NM_002711.4
p.K469delFs
c.1407delT
1 paper
NM_002711.4
p.G447D
c.1340G>A
1 paper
NM_002711.4
p.H446R
c.1337A>G
2 papers
NM_002711.4
p.N476K
c.1428T>G
2 papers
NM_002711.4
p.N476K
c.1428T>A
1 paper
NM_002711.4
p.N441K
c.1323T>G
1 paper
NM_002711.4
p.N441K
c.1323T>A
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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."