Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A

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
1–12 of 232 variants
19 papers
NM_002711.4
p.D905Y
c.2713G>T
7 papers
NM_002711.4
p.R883S
c.2649G>T
6 papers
NM_002711.4
p.R883S
c.2649G>C
5 papers
NM_002711.4
p.Q662delFs
c.1985_1986delCT
4 papers
NM_002711.4
p.F388L
c.1162T>C
4 papers
NM_002711.4
p.F388L
c.1164T>G
4 papers
NM_002711.4
p.F388L
c.1164T>A
4 papers
NM_002711.4
p.Q662fs
c.1984_1985fs
2 papers
NM_002711.4
p.G45S
c.133G>A
2 papers
NM_002711.4
p.S87G
c.259A>G
2 papers
NM_002711.4
p.N476K
c.1428T>G
2 papers
NM_002711.4
p.N476K
c.1428T>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."