PPP1R3A

protein phosphatase 1 regulatory subunit 3A

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 encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]

Known Variants102 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs575818412	7:113,517,830	G/A	—	uncertain significance
rs150508666	7:113,517,863	A/G	—	uncertain significance
rs139484221	7:113,517,887	A/C	—	uncertain significance
rs77456357	7:113,517,888	T/C	—	benign
rs958665234	7:113,517,932	G/C	—	uncertain significance
rs368610339	7:113,517,954	C/T	—	uncertain significance
rs2484958289	7:113,517,978	C/T	—	uncertain significance
rs147957263	7:113,517,999	C/A	—	uncertain significance
rs1648653004	7:113,518,004	C/T	—	uncertain significance
rs200480987	7:113,518,019	T/C	—	uncertain significance
rs149701175	7:113,518,103	T/C	—	benign
rs765661225	7:113,518,116	T/C	—	uncertain significance
rs35572169	7:113,518,157	A/G	—	uncertain significance
rs374950521	7:113,518,175	C/T	—	uncertain significance
rs1260125217	7:113,518,247	G/T	—	uncertain significance
rs148408134	7:113,518,262	C/T	—	likely benign
rs754703917	7:113,518,304	G/A	—	uncertain significance
rs376809464	7:113,518,324	C/A	—	uncertain significance
rs138771673	7:113,518,325	A/G	—	uncertain significance
rs772082412	7:113,518,326	T/C	—	uncertain significance
rs2484959468	7:113,518,340	T/C	—	uncertain significance
rs747057183	7:113,518,342	C/A	—	uncertain significance
rs776699901	7:113,518,353	T/C	—	uncertain significance
rs764517275	7:113,518,373	A/G	—	uncertain significance
rs199651768	7:113,518,390	A/T	—	uncertain significance
rs1796608878	7:113,518,409	C/T	—	uncertain significance
rs1799999	7:113,518,434	C/A	missense variant	risk factor
rs140543337	7:113,518,466	G/C	—	uncertain significance
rs1800000	7:113,518,498	C/A	—	benign
rs2974938	7:113,518,502	A/T	missense variant	benign
rs115322623	7:113,518,507	T/A	—	likely benign
rs267601238	7:113,518,568	G/A	—	uncertain significance
rs371701204	7:113,518,672	C/T	—	uncertain significance
rs151089821	7:113,518,683	T/C	—	uncertain significance
rs139926471	7:113,518,710	G/A	—	uncertain significance
rs34746672	7:113,518,728	A/T	—	uncertain significance
rs752914441	7:113,518,757	T/C	—	uncertain significance
rs1471160727	7:113,518,779	G/C	—	uncertain significance
rs151310594	7:113,518,880	G/A	—	likely benign
rs2484961820	7:113,518,964	C/T	—	uncertain significance
rs141736481	7:113,519,025	T/C	—	uncertain significance
rs1163015087	7:113,519,046	C/T	—	uncertain significance
rs777227336	7:113,519,075	T/C	—	uncertain significance
rs150106418	7:113,519,086	T/C	—	likely benign
rs372908810	7:113,519,129	G/C	—	uncertain significance
rs759989276	7:113,519,148	C/T	—	uncertain significance
rs142769073	7:113,519,183	C/T	—	likely benign
rs61756423	7:113,519,232	C/A	—	likely benign
rs35067467	7:113,519,267	C/T	—	benign
rs771083537	7:113,519,306	G/T	—	uncertain significance
rs76910192	7:113,519,312	C/T	—	benign
rs776039781	7:113,519,316	C/T	—	uncertain significance
rs144397367	7:113,519,322	C/T	—	likely benign
rs767098711	7:113,519,323	G/T	—	uncertain significance
rs1796638321	7:113,519,380	T/G	—	uncertain significance
rs758192762	7:113,519,406	C/G	—	uncertain significance
rs35398707	7:113,519,433	T/C	—	benign
rs749624006	7:113,519,470	G/T	—	uncertain significance
rs1796642442	7:113,519,510	C/A	—	uncertain significance
rs759223360	7:113,519,531	T/G	—	uncertain significance
rs1198974038	7:113,519,664	C/T	—	uncertain significance
rs142774244	7:113,519,669	G/A	—	uncertain significance
rs1562916926	7:113,519,718	T/C	—	uncertain significance
rs2974944	7:113,519,719	A/T	missense variant	benign
rs2484964504	7:113,519,734	T/G	—	uncertain significance
rs2974942	7:113,519,796	C/T	missense variant	benign
rs202039462	7:113,519,864	A/T	—	uncertain significance
rs138812345	7:113,519,930	T/G	—	conflicting classifications of pathogenicity
rs62001864	7:113,519,964	A/C	—	benign
rs533705714	7:113,519,997	C/T	—	likely benign
rs769958231	7:113,520,018	T/A	—	uncertain significance
rs2484965469	7:113,520,059	C/T	—	uncertain significance
rs372606055	7:113,520,107	A/G	—	uncertain significance
rs1170585845	7:113,520,161	C/A	—	uncertain significance
rs8192686	7:113,520,256	C/T	—	benign
rs11973095	7:113,520,262	C/T	—	benign
rs924303452	7:113,522,170	A/C	—	uncertain significance
rs80264037	7:113,522,181	G/C	—	uncertain significance
rs371083356	7:113,522,189	G/A	—	uncertain significance
rs541327220	7:113,522,350	C/T	—	uncertain significance
rs4730600	7:113,522,515	T/G	—	benign
rs35436835	7:113,522,662	T/C	—	benign
rs200332428	7:113,558,316	C/T	—	uncertain significance
rs141223649	7:113,558,424	G/A	—	uncertain significance
rs750533996	7:113,558,475	C/G	—	uncertain significance
rs2485029304	7:113,558,484	A/G	—	uncertain significance
rs1057524893	7:113,558,636	G/C	—	likely benign
rs1443133963	7:113,558,648	G/T	—	likely benign
rs138953027	7:113,558,693	A/G	—	uncertain significance
rs200585550	7:113,558,725	C/T	—	likely benign
rs115949425	7:113,558,755	G/T	—	uncertain significance
rs764488359	7:113,558,790	C/T	—	uncertain significance
rs1179318748	7:113,558,795	G/A	—	uncertain significance
rs8192687	7:113,558,919	T/C	—	benign
rs146092707	7:113,558,945	C/T	—	conflicting classifications of pathogenicity
rs920573146	7:113,558,963	T/C	—	uncertain significance
rs775740832	7:113,558,983	G/C	—	uncertain significance
rs2485031113	7:113,559,015	C/A	—	uncertain significance
rs764688600	7:113,559,020	C/T	—	uncertain significance
rs757050193	7:113,559,045	G/T	—	uncertain significance

Showing 100 of 102 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.