Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A
Variant:p.R689fs

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.R689fs
c.2065_2066fs
Surrounding Variants
1 paper
NM_002711.4
p.R689insFs
c.2065dupA
1 paper
NM_002711.4
p.R689T
c.2066G>C
1 paper
NM_002711.4
p.K688N
c.2064A>T
1 paper
NM_002711.4
p.K688N
c.2064A>C
1 paper
NM_002711.4
p.S694T
c.2081G>C
1 paper
NM_002711.4
p.D684D
c.2052C>T
1 paper
NM_002711.4
p.E700K
c.2098G>A
1 paper
NM_002711.4
p.E707*
c.2119G>T
1 paper
NM_002711.4
p.E707K
c.2119G>A
1 paper
NM_002711.4
p.K669delFs
c.2006delT
1 paper
NM_002711.4
p.S715F
c.2144C>T
1 paper
NM_002711.4
p.G663G
c.1989A>G
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