STK36

serine/threonine kinase 36

Summary

This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Known Variants155 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2241527	2:219,537,224	G/A	—	benign
rs6748692	2:219,537,237	A/T	—	benign
rs765682610	2:219,537,616	C/A	—	likely benign
rs371037310	2:219,538,351	G/A	—	uncertain significance
rs758324141	2:219,538,382	G/T	—	uncertain significance
rs758106392	2:219,538,423	A/G	—	uncertain significance
rs746627715	2:219,538,429	C/T	—	uncertain significance
rs1186686334	2:219,538,438	C/T	—	uncertain significance
rs7604319	2:219,538,799	A/C	—	benign
rs73079025	2:219,539,990	A/G	—	benign
rs770146736	2:219,540,078	G/A	—	uncertain significance
rs148800637	2:219,540,127	T/C	—	uncertain significance
rs768080357	2:219,540,159	C/T	—	uncertain significance
rs750683279	2:219,540,162	G/A	—	uncertain significance
rs1175415874	2:219,540,184	T/C	—	uncertain significance
rs143680180	2:219,540,266	A/G	—	benign
rs145775550	2:219,540,341	G/A	—	benign
rs369351984	2:219,540,760	G/A	—	uncertain significance
rs373433410	2:219,540,765	A/G	—	uncertain significance
rs147587613	2:219,540,771	A/G	—	uncertain significance
rs779969325	2:219,540,849	G/A	—	uncertain significance
rs147857340	2:219,540,919	A/G	—	uncertain significance
rs146346868	2:219,540,969	C/T	—	uncertain significance
rs371599500	2:219,540,981	A/T	—	uncertain significance
rs533620248	2:219,540,988	G/A	—	uncertain significance
rs2556388	2:219,541,056	T/C	—	benign
rs73079030	2:219,541,111	C/T	—	benign
rs35038757	2:219,543,924	C/T	—	benign
rs149860283	2:219,543,960	C/T	—	uncertain significance
rs1257211736	2:219,543,970	C/T	—	uncertain significance
rs372490459	2:219,544,276	C/T	—	likely benign
rs1863703	2:219,544,388	A/G	—	benign
rs138126812	2:219,544,402	C/T	—	uncertain significance
rs1163609116	2:219,544,421	A/G	—	likely benign
rs376277464	2:219,544,459	G/A	—	likely benign
rs34027859	2:219,544,652	G/A	—	benign
rs199812406	2:219,544,723	C/G	—	uncertain significance
rs1233610446	2:219,544,724	C/T	—	uncertain significance
rs78424919	2:219,544,733	G/A	—	conflicting classifications of pathogenicity
rs57995704	2:219,545,191	G/T	—	benign
rs2303565	2:219,545,309	T/C	intron variant	benign
rs55839518	2:219,545,347	T/C	—	likely benign
rs1307695726	2:219,545,358	C/T	—	uncertain significance
rs2469942568	2:219,545,381	G/A	—	uncertain significance
rs2106349072	2:219,545,421	A/T	—	uncertain significance
rs2912737	2:219,545,789	A/G	intron variant	—
rs144833360	2:219,549,816	C/A	—	benign
rs148515974	2:219,549,834	G/A	—	likely benign
rs746425399	2:219,549,856	C/G	—	uncertain significance
rs138794302	2:219,549,901	C/T	—	likely benign
rs1807165	2:219,552,661	A/C	—	—
rs73079056	2:219,553,238	T/C	—	benign
rs73079058	2:219,553,332	A/G	—	benign
rs45586733	2:219,553,423	C/G	—	benign
rs148619290	2:219,553,432	A/G	—	likely benign
rs141511662	2:219,553,458	G/A	—	likely benign
rs16859180	2:219,553,468	C/T	—	benign
rs73079060	2:219,553,503	T/C	—	benign
rs146493276	2:219,553,528	C/G	—	likely benign
rs143241750	2:219,553,566	C/T	—	likely benign
rs201277567	2:219,553,581	G/A	—	likely benign
rs7576129	2:219,553,721	G/A	—	benign
rs151235623	2:219,554,584	A/G	—	likely benign
rs1217392085	2:219,554,590	G/T	—	uncertain significance
rs1327428704	2:219,554,618	G/A	—	uncertain significance
rs143073615	2:219,554,632	C/T	—	benign
rs185745664	2:219,555,173	C/G	—	uncertain significance
rs1344642	2:219,555,262	A/G	—	benign
rs1427444	2:219,555,292	A/G	—	benign
rs73079062	2:219,555,403	C/T	—	benign
rs2469966475	2:219,556,968	C/T	—	uncertain significance
rs2469966482	2:219,556,970	C/T	—	likely benign
rs2469966564	2:219,556,996	T/C	—	uncertain significance
rs6709303	2:219,557,014	A/C	—	benign
rs559686721	2:219,557,017	G/A	—	uncertain significance
rs775271105	2:219,557,396	C/T	—	uncertain significance
rs780337920	2:219,557,431	C/G	—	uncertain significance
rs58715847	2:219,557,479	A/G	—	benign
rs78686214	2:219,557,661	G/T	—	benign
rs2303566	2:219,557,738	G/A	—	benign
rs145980892	2:219,558,006	A/C	—	benign
rs371426036	2:219,558,034	G/A	—	likely benign
rs55996799	2:219,558,193	C/G	—	benign
rs199511353	2:219,558,475	G/C	—	uncertain significance
rs373669832	2:219,558,486	G/A	—	likely benign
rs548093796	2:219,558,528	T/C	—	uncertain significance
rs1372374389	2:219,558,624	G/A	—	uncertain significance
rs2469971593	2:219,558,655	C/T	—	uncertain significance
rs765198065	2:219,558,658	T/C	—	uncertain significance
rs752632768	2:219,558,660	T/C	—	uncertain significance
rs55744350	2:219,558,698	G/A	—	benign
rs139073740	2:219,558,989	T/C	—	benign
rs142440976	2:219,558,997	C/G	—	uncertain significance
rs1305038431	2:219,559,015	A/G	—	uncertain significance
rs73079072	2:219,559,018	C/G	—	benign
rs142976480	2:219,559,265	A/G	—	benign
rs13004222	2:219,560,492	C/T	—	—
rs6733350	2:219,561,141	G/A	—	benign
rs13023540	2:219,561,254	G/A	—	likely benign
rs36099639	2:219,561,256	T/G	—	likely benign

Showing 100 of 155 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.