Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A
Variant:p.K234T

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.K234T
c.701A>C
Surrounding Variants
1 paper
NM_002711.4
p.E237Q
c.709G>C
1 paper
NM_002711.4
p.P238T
c.712C>A
1 paper
NM_002711.4
p.F229L
c.687C>G
1 paper
NM_002711.4
p.F229L
c.687C>A
1 paper
NM_002711.4
p.F229S
c.686T>C
1 paper
NM_002711.4
p.F229L
c.685T>C
1 paper
NM_002711.4
p.K242Q
c.724A>C
1 paper
NM_002711.4
p.P243delFs
c.728delG
1 paper
NM_002711.4
p.W244*
c.731G>A
1 paper
NM_002711.4
p.W244*
c.732G>A
1 paper
NM_002711.4
p.K253I
c.758A>T
1 paper
NM_002711.4
p.G254C
c.760G>T
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