Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A
Variant:p.F388L

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
4 papers
NM_002711.4
p.F388L
c.1164T>A
Surrounding Variants
4 papers
NM_002711.4
p.F388L
c.1164T>G
4 papers
NM_002711.4
p.F388L
c.1162T>C
1 paper
NM_002711.4
p.G386E
c.1157G>A
1 paper
NM_002711.4
p.K385K
c.1155G>A
1 paper
NM_002711.4
p.Y394H
c.1180T>C
1 paper
NM_002711.4
p.S379*
c.1136C>G
1 paper
NM_002711.4
p.S379*
c.1136C>A
1 paper
NM_002711.4
p.S405S
c.1215A>G
1 paper
NM_002711.4
p.T408I
c.1223C>T
1 paper
NM_002711.4
p.G413*
c.1237G>T
1 paper
NM_002711.4
p.G413E
c.1238G>A
1 paper
NM_002711.4
p.G355R
c.1063G>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."