Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A
Variant:p.P756L

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
2 papers
NM_002711.4
p.P756L
c.2267C>T
Surrounding Variants
1 paper
NM_002711.4
p.V768L
c.2302G>T
1 paper
NM_002711.4
p.V768L
c.2302G>C
1 paper
NM_002711.4
p.A772V
c.2315C>T
1 paper
NM_002711.4
p.D781E
c.2343T>G
1 paper
NM_002711.4
p.D781E
c.2343T>A
1 paper
NM_002711.4
p.G728delFs
c.2183_2184delAC
1 paper
NM_002711.4
p.G728del1
c.2182_2183delACC
1 paper
NM_002711.4
p.A725P
c.2173G>C
1 paper
NM_002711.4
p.C788Y
c.2363G>A
1 paper
NM_002711.4
p.S715F
c.2144C>T
1 paper
NM_002711.4
p.S805*
c.2414C>G
1 paper
NM_002711.4
p.S805*
c.2414C>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."