PSPH

phosphoserine phosphatase

Summary

The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]

Known Variants163 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs766855269	7:56,078,806	T/G	—	uncertain significance
rs751911806	7:56,078,867	C/T	—	uncertain significance
rs71543776	7:56,078,965	G/A	—	benign
rs1318551050	7:56,078,998	G/A	—	uncertain significance
rs145544909	7:56,079,049	C/T	—	benign
rs564916020	7:56,079,084	T/C	—	uncertain significance
rs4947534	7:56,079,094	T/C	3 prime UTR variant	benign
rs886062387	7:56,079,114	C/T	—	uncertain significance
rs565399960	7:56,079,138	C/T	—	likely benign
rs190483183	7:56,079,139	G/A	—	uncertain significance
rs886062388	7:56,079,146	T/C	—	uncertain significance
rs183424432	7:56,079,177	G/A	—	uncertain significance
rs886062389	7:56,079,178	C/T	—	uncertain significance
rs997839370	7:56,079,252	A/G	—	uncertain significance
rs1181829048	7:56,079,298	G/A	—	uncertain significance
rs1787928354	7:56,079,409	T/G	—	uncertain significance
rs374366346	7:56,079,433	T/C	—	uncertain significance
rs376164457	7:56,079,443	C/T	—	uncertain significance
rs35136814	7:56,079,444	A/G	—	benign
rs140998795	7:56,079,447	A/G	—	benign
rs536712417	7:56,079,460	C/G	—	uncertain significance
rs771211504	7:56,079,461	T/C	—	likely benign
rs1584363520	7:56,079,467	T/C	—	likely benign
rs2534767698	7:56,079,482	T/C	—	likely benign
rs73343752	7:56,079,483	A/G	—	conflicting classifications of pathogenicity
rs935820820	7:56,079,486	A/C	—	uncertain significance
rs2116425690	7:56,079,492	G/C	—	uncertain significance
rs775832385	7:56,079,498	T/C	—	uncertain significance
rs146008713	7:56,079,509	G/A	—	likely benign
rs1335846307	7:56,079,518	G/A	—	likely benign
rs367649146	7:56,079,521	T/G	—	uncertain significance
rs752178752	7:56,079,524	T/C	—	likely benign
rs1160520229	7:56,079,529	T/G	—	likely benign
rs1324086852	7:56,079,536	A/C	—	uncertain significance
rs753682900	7:56,079,537	T/A	—	uncertain significance
rs1050709633	7:56,079,538	T/G	—	uncertain significance
rs2534769564	7:56,079,540	C/T	—	uncertain significance
rs779259191	7:56,079,558	G/A	—	conflicting classifications of pathogenicity
rs11238389	7:56,079,744	A/G	intron variant	—
rs2116512576	7:56,082,697	T/C	—	likely benign
rs773961687	7:56,082,702	C/T	—	likely benign
rs1455581364	7:56,082,704	C/G	—	likely benign
rs373367280	7:56,082,711	C/G	—	uncertain significance
rs1245541885	7:56,082,735	A/C	—	uncertain significance
rs2534833176	7:56,082,737	A/G	—	likely benign
rs527489732	7:56,082,744	G/A	—	likely benign
rs2534833351	7:56,082,746	A/G	—	likely benign
rs1788401716	7:56,082,777	T/C	—	uncertain significance
rs1253579440	7:56,082,780	A/G	—	uncertain significance
rs2116514516	7:56,082,797	T/C	—	likely benign
rs1788403688	7:56,082,802	T/C	—	uncertain significance
rs765086289	7:56,082,805	C/T	—	uncertain significance
rs2116514675	7:56,082,807	T/C	—	uncertain significance
rs1410416350	7:56,082,817	C/A	—	uncertain significance
rs750270446	7:56,082,819	C/T	—	uncertain significance
rs2534834720	7:56,082,822	G/A	—	uncertain significance
rs147304638	7:56,082,831	G/A	—	conflicting classifications of pathogenicity
rs2116515322	7:56,082,836	C/T	—	likely benign
rs143341199	7:56,082,839	C/T	—	likely benign
rs374024099	7:56,082,840	G/A	—	uncertain significance
rs374776295	7:56,082,845	A/G	—	likely benign
rs2534835818	7:56,082,854	T/G	—	likely benign
rs1788411017	7:56,082,862	C/T	—	uncertain significance
rs376149020	7:56,082,867	T/G	—	uncertain significance
rs1255771879	7:56,082,868	A/C	—	likely benign
rs749619757	7:56,082,878	T/G	—	likely benign
rs766608256	7:56,084,907	T/C	—	likely benign
rs2116565444	7:56,084,915	T/A	—	likely benign
rs534946771	7:56,084,927	C/T	—	uncertain significance
rs146276460	7:56,084,928	G/A	—	uncertain significance
rs756554508	7:56,084,934	G/A	—	likely benign
rs2534871058	7:56,084,940	T/C	—	likely benign
rs2534871142	7:56,084,946	C/A	—	uncertain significance
rs148469975	7:56,084,950	T/C	—	uncertain significance
rs869312942	7:56,084,951	T/G	—	uncertain significance
rs2534871602	7:56,084,958	T/C	—	likely benign
rs771251320	7:56,084,962	T/C	—	uncertain significance
rs768449967	7:56,084,969	C/T	—	uncertain significance
rs2534872061	7:56,084,976	A/G	—	likely benign
rs761409780	7:56,084,977	T/C	—	uncertain significance
rs773338634	7:56,084,979	G/A	—	likely benign
rs1788685345	7:56,084,982	C/G	—	uncertain significance
rs1290090200	7:56,084,990	C/A	—	uncertain significance
rs373775129	7:56,084,994	A/G	—	likely benign
rs1339587709	7:56,084,995	T/C	—	uncertain significance
rs766126853	7:56,084,997	C/A	—	uncertain significance
rs751400364	7:56,085,002	C/T	—	uncertain significance
rs140301679	7:56,085,007	C/A	—	uncertain significance
rs2116568145	7:56,085,009	C/T	—	likely benign
rs1295914487	7:56,085,032	A/G	—	uncertain significance
rs1562786740	7:56,085,043	T/C	—	uncertain significance
rs377489734	7:56,085,046	C/T	—	uncertain significance
rs1264747554	7:56,085,047	G/A	—	likely pathogenic
rs754344374	7:56,085,059	G/A	—	uncertain significance
rs2116569669	7:56,085,072	C/T	—	uncertain significance
rs2534874304	7:56,085,074	T/C	—	uncertain significance
rs578109497	7:56,085,076	C/G	—	likely benign
rs769475589	7:56,085,086	T/C	—	likely benign
rs1788701522	7:56,085,089	A/G	—	likely benign
rs1788701887	7:56,085,092	A/C	—	likely benign

Showing 100 of 163 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.