Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A
Variant:p.E117D

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.E117D
c.351A>C
Surrounding Variants
1 paper
NM_002711.4
p.E117D
c.351A>T
1 paper
NM_002711.4
p.L119V
c.355C>G
1 paper
NM_002711.4
p.Q122H
c.366A>T
1 paper
NM_002711.4
p.Q122H
c.366A>C
1 paper
NM_002711.4
p.V105_L106insFs
c.315_316insC
1 paper
NM_002711.4
p.E131K
c.391G>A
1 paper
NM_002711.4
p.E102A
c.305A>C
1 paper
NM_002711.4
p.G138R
c.412G>C
1 paper
NM_002711.4
p.L94L
c.282A>G
1 paper
NM_002711.4
p.T140fs
c.418_419fs
1 paper
NM_002711.4
p.S141N
c.422G>A
1 paper
NM_002711.4
p.T90T
c.270C>T
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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."