TEK

TEK receptor tyrosine kinase

Summary

This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

Known Variants317 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10967719	9:27,108,810	G/T	—	benign
rs657867	9:27,108,975	T/C	—	benign
rs149944814	9:27,109,164	A/G	—	likely benign
rs886063815	9:27,109,235	A/G	—	uncertain significance
rs147620532	9:27,109,263	A/G	—	uncertain significance
rs534352362	9:27,109,493	G/A	—	uncertain significance
rs571331918	9:27,109,568	G/A	—	benign
rs146485295	9:27,109,600	A/C	—	benign
rs2131018026	9:27,109,620	G/A	—	uncertain significance
rs201171013	9:27,109,626	G/T	—	uncertain significance
rs149096702	9:27,109,638	C/G	—	uncertain significance
rs622232	9:27,118,707	G/A	intron variant	—
rs1334809	9:27,126,415	G/C	—	—
rs7034505	9:27,151,394	G/C	—	—
rs143178677	9:27,157,835	T/C	—	conflicting classifications of pathogenicity
rs2131119583	9:27,157,862	T/C	—	uncertain significance
rs76223779	9:27,157,914	C/T	—	benign
rs763083737	9:27,157,934	A/T	—	uncertain significance
rs774440968	9:27,157,989	G/A	—	likely benign
rs575190843	9:27,158,008	G/A	—	uncertain significance
rs146302981	9:27,158,009	T/C	—	benign
rs55892210	9:27,158,010	G/A	—	benign
rs766278026	9:27,158,020	T/C	—	uncertain significance
rs759283621	9:27,158,032	G/A	—	uncertain significance
rs764880845	9:27,158,043	G/T	—	conflicting classifications of pathogenicity
rs758187604	9:27,158,047	G/C	—	uncertain significance
rs572527340	9:27,158,085	A/C	—	conflicting classifications of pathogenicity
rs760650172	9:27,158,092	G/A	—	uncertain significance
rs773256013	9:27,158,132	G/A	—	uncertain significance
rs10511802	9:27,168,315	G/A	—	benign
rs12349832	9:27,168,433	G/A	—	benign
rs610646	9:27,168,468	G/A	—	benign
rs371486685	9:27,168,474	G/A	—	likely benign
rs1823823054	9:27,168,488	A/G	—	uncertain significance
rs770932705	9:27,168,497	C/T	—	likely benign
rs143058954	9:27,168,542	C/T	—	likely benign
rs2490101746	9:27,168,548	C/A	—	uncertain significance
rs35969327	9:27,168,571	T/C	—	benign
rs753021890	9:27,168,576	G/T	stop gained	pathogenic
rs2490102018	9:27,168,604	G/T	—	likely pathogenic
rs10967753	9:27,168,704	C/T	—	benign
rs752000002	9:27,169,483	A/T	—	conflicting classifications of pathogenicity
rs991526480	9:27,169,547	C/T	—	uncertain significance
rs1587545234	9:27,169,577	A/G	—	likely pathogenic
rs35814893	9:27,172,662	C/T	—	likely benign
rs910332944	9:27,172,691	G/A	—	uncertain significance
rs1824004002	9:27,172,713	C/T	—	uncertain significance
rs76324455	9:27,172,735	G/A	—	benign
rs773568497	9:27,172,750	G/T	—	likely benign
rs3739542	9:27,172,838	C/A	—	benign
rs3824410	9:27,173,062	G/T	regulatory region variant	benign
rs3824409	9:27,173,080	A/G	—	benign
rs3824408	9:27,173,082	A/G	—	benign
rs666478	9:27,173,180	T/C	—	benign
rs138708761	9:27,173,235	C/T	—	benign
rs764047256	9:27,173,265	G/T	—	uncertain significance
rs372307879	9:27,173,268	G/A	—	uncertain significance
rs2131150099	9:27,173,316	G/T	—	uncertain significance
rs747484849	9:27,173,317	G/T	—	likely benign
rs781677642	9:27,173,339	A/C	—	likely benign
rs146169480	9:27,173,341	G/C	missense variant	uncertain significance
rs41314569	9:27,173,429	C/T	—	benign
rs41272241	9:27,180,228	C/T	—	benign
rs533028014	9:27,180,247	C/T	—	likely benign
rs371104063	9:27,180,251	T/A	—	likely benign
rs541217363	9:27,180,257	C/T	synonymous variant	pathogenic
rs752184169	9:27,180,258	G/A	—	uncertain significance
rs559473908	9:27,180,289	A/G	—	likely benign
rs2490156338	9:27,180,295	G/A	—	uncertain significance
rs749678742	9:27,180,300	A/G	—	uncertain significance
rs2490156647	9:27,180,348	C/A	—	uncertain significance
rs775264500	9:27,180,372	G/A	—	uncertain significance
rs682632	9:27,183,463	A/C	missense variant	benign
rs1824476725	9:27,183,513	A/G	—	uncertain significance
rs765409556	9:27,183,548	C/A	—	likely benign
rs368494167	9:27,183,561	A/G	—	likely benign
rs146464819	9:27,183,572	A/G	—	benign
rs34032300	9:27,183,598	C/T	—	benign
rs2273723	9:27,185,251	C/T	—	benign
rs1254840237	9:27,185,489	G/T	—	likely benign
rs573051752	9:27,185,499	A/G	—	likely benign
rs774713473	9:27,185,503	G/A	—	uncertain significance
rs1824563357	9:27,185,517	T/G	—	uncertain significance
rs886063820	9:27,185,536	C/T	—	uncertain significance
rs534867466	9:27,185,537	C/T	—	uncertain significance
rs369394656	9:27,185,540	A/C	—	uncertain significance
rs149712446	9:27,185,549	C/G	—	uncertain significance
rs774742672	9:27,185,574	G/A	—	likely benign
rs75365911	9:27,185,594	A/T	—	uncertain significance
rs372461928	9:27,185,603	A/C	—	uncertain significance
rs189543659	9:27,185,613	A/G	—	likely benign
rs1217204389	9:27,185,619	C/T	—	uncertain significance
rs17834811	9:27,185,762	T/G	—	benign
rs581724	9:27,187,422	G/T	intron variant	—
rs4878361	9:27,190,249	G/T	—	benign
rs2131183122	9:27,190,539	C/T	—	uncertain significance
rs149684174	9:27,190,545	A/G	—	likely benign
rs45607336	9:27,190,553	A/G	—	uncertain significance
rs200857533	9:27,190,586	A/G	—	conflicting classifications of pathogenicity
rs746069957	9:27,190,589	A/C	—	conflicting classifications of pathogenicity

Showing 100 of 317 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.