PTPN14

protein tyrosine phosphatase non-receptor type 14

Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]

Known Variants154 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1657710277	1:214,524,945	G/A	—	uncertain significance
rs2291831	1:214,531,239	C/T	—	benign
rs138031903	1:214,531,329	A/G	—	uncertain significance
rs11120303	1:214,537,549	C/T	—	benign
rs72757949	1:214,537,627	C/T	—	benign
rs374113328	1:214,537,858	G/A	—	likely benign
rs150646672	1:214,537,887	C/T	—	uncertain significance
rs200340171	1:214,537,946	G/A	—	benign
rs1018710626	1:214,537,952	C/T	—	uncertain significance
rs73074015	1:214,537,978	G/A	—	benign
rs767244490	1:214,537,979	T/C	—	uncertain significance
rs3002299	1:214,538,286	A/T	—	benign
rs3002311	1:214,542,668	T/C	—	benign
rs1135352	1:214,542,819	T/C	—	benign
rs61749332	1:214,542,891	G/A	—	benign
rs372350429	1:214,542,933	C/T	—	likely benign
rs61749333	1:214,542,934	G/C	—	likely benign
rs776388847	1:214,543,017	T/G	—	uncertain significance
rs971817654	1:214,543,025	G/A	—	pathogenic
rs3738425	1:214,543,098	G/A	—	benign
rs72757957	1:214,545,760	T/G	—	benign
rs3002306	1:214,546,484	G/A	—	benign
rs1125452	1:214,549,501	C/T	—	benign
rs753599035	1:214,549,610	T/C	—	uncertain significance
rs148547412	1:214,549,637	G/A	—	likely benign
rs373145053	1:214,549,667	G/A	—	likely benign
rs138595241	1:214,549,711	T/G	—	uncertain significance
rs3013451	1:214,551,276	G/A	—	benign
rs1214005990	1:214,551,324	G/A	—	uncertain significance
rs76763910	1:214,551,360	C/T	—	likely benign
rs2527806552	1:214,551,373	G/A	—	uncertain significance
rs148810458	1:214,551,394	T/C	—	uncertain significance
rs200455156	1:214,551,412	C/T	—	uncertain significance
rs1025998326	1:214,551,424	C/G	—	uncertain significance
rs73074045	1:214,551,526	T/C	—	benign
rs2936013	1:214,551,626	C/T	—	benign
rs72757966	1:214,556,483	T/A	—	benign
rs73074055	1:214,556,540	C/T	—	benign
rs146424456	1:214,556,684	G/A	—	benign
rs1030908546	1:214,556,694	G/A	—	uncertain significance
rs1209052383	1:214,556,752	C/T	—	uncertain significance
rs146980027	1:214,556,785	C/T	—	uncertain significance
rs563897292	1:214,556,799	T/C	—	uncertain significance
rs139248712	1:214,556,873	C/T	—	uncertain significance
rs2527823096	1:214,556,911	C/A	—	uncertain significance
rs184270548	1:214,556,938	C/T	—	uncertain significance
rs763777645	1:214,556,981	C/T	—	likely benign
rs774165865	1:214,556,982	G/T	—	uncertain significance
rs766818511	1:214,556,991	T/G	—	uncertain significance
rs142125075	1:214,557,015	C/T	—	uncertain significance
rs1435611997	1:214,557,034	G/A	—	uncertain significance
rs1300824699	1:214,557,133	G/C	—	uncertain significance
rs138971900	1:214,557,139	G/A	—	uncertain significance
rs759897774	1:214,557,166	C/T	—	uncertain significance
rs770086401	1:214,557,167	G/A	—	likely benign
rs61749334	1:214,557,196	G/A	—	likely benign
rs754960996	1:214,557,198	C/G	—	uncertain significance
rs369869120	1:214,557,232	T/C	—	uncertain significance
rs774735121	1:214,557,279	C/T	—	likely pathogenic
rs150718890	1:214,557,296	G/A	—	likely benign
rs139407701	1:214,557,312	G/A	—	benign
rs144384423	1:214,557,424	C/T	—	uncertain significance
rs757838276	1:214,557,486	G/T	—	uncertain significance
rs756287378	1:214,557,497	C/T	—	likely benign
rs1482587888	1:214,557,562	G/C	—	uncertain significance
rs141184727	1:214,557,615	G/A	—	uncertain significance
rs2527826698	1:214,557,621	C/T	—	uncertain significance
rs767967885	1:214,557,624	G/A	—	uncertain significance
rs199871474	1:214,557,635	A/G	—	likely benign
rs779067417	1:214,557,683	G/A	—	likely benign
rs756536450	1:214,557,686	C/T	—	likely benign
rs138557012	1:214,557,727	G/A	—	likely benign
rs78710334	1:214,557,815	G/A	—	benign
rs373748699	1:214,557,849	C/A	—	uncertain significance
rs141247660	1:214,557,945	C/T	—	likely benign
rs12404313	1:214,557,998	C/T	—	likely benign
rs368855789	1:214,558,027	C/T	—	uncertain significance
rs781130258	1:214,558,046	G/T	—	likely benign
rs2527828669	1:214,558,085	G/T	—	uncertain significance
rs112523432	1:214,558,119	T/G	—	likely benign
rs780387119	1:214,558,135	C/T	—	likely benign
rs3013446	1:214,558,228	A/G	—	benign
rs2102542898	1:214,560,184	T/A	—	uncertain significance
rs116652390	1:214,560,194	G/A	—	likely benign
rs2270703	1:214,560,293	G/T	—	benign
rs12748350	1:214,564,177	T/C	—	benign
rs12729692	1:214,564,191	C/A	—	benign
rs7550799	1:214,564,340	C/T	—	benign
rs11120307	1:214,564,442	C/G	—	benign
rs61821383	1:214,565,066	C/G	intron variant	—
rs7355212	1:214,566,845	A/G	—	benign
rs4655342	1:214,566,952	G/A	—	benign
rs371765337	1:214,567,069	T/C	—	uncertain significance
rs6657368	1:214,567,378	G/A	—	benign
rs35027429	1:214,568,242	C/T	—	benign
rs202003994	1:214,568,270	T/C	—	uncertain significance
rs2527861467	1:214,568,306	G/A	—	uncertain significance
rs11120308	1:214,568,471	C/A	—	benign
rs11120309	1:214,570,970	C/T	—	benign
rs11580603	1:214,571,251	C/A	—	benign

Showing 100 of 154 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.