Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A
Variant:p.Q662delFs

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
5 papers
NM_002711.4
p.Q662delFs
c.1985_1986delCT
Surrounding Variants
1 paper
NM_002711.4
p.G663R
c.1987G>C
1 paper
NM_002711.4
p.G663R
c.1987G>A
4 papers
NM_002711.4
p.Q662fs
c.1984_1985fs
1 paper
NM_002711.4
p.G663G
c.1989A>G
1 paper
NM_002711.4
p.K669delFs
c.2006delT
1 paper
NM_002711.4
p.S649I
c.1946G>T
1 paper
NM_002711.4
p.D647E
c.1941T>G
1 paper
NM_002711.4
p.D647E
c.1941T>A
1 paper
NM_002711.4
p.I641N
c.1922T>A
1 paper
NM_002711.4
p.D684D
c.2052C>T
1 paper
NM_002711.4
p.K688N
c.2064A>T
1 paper
NM_002711.4
p.K688N
c.2064A>C
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