INTU

inturned planar cell polarity protein

Summary

Predicted to enable phosphatidylinositol binding activity. Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in several cellular components, including ciliary basal body; cytosol; and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2025]

Known Variants282 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs140291958	4:128,546,400	A/G	intron variant	—
rs9942183	4:128,553,889	G/A	—	benign
rs9942182	4:128,553,985	C/A	—	benign
rs779552691	4:128,554,221	C/G	—	uncertain significance
rs1279975484	4:128,554,224	G/A	—	uncertain significance
rs747779931	4:128,554,247	C/G	—	uncertain significance
rs187348525	4:128,554,248	C/T	—	uncertain significance
rs772713377	4:128,554,264	A/T	—	likely benign
rs2530872920	4:128,554,266	A/T	—	uncertain significance
rs1726908847	4:128,554,272	A/T	—	uncertain significance
rs148080788	4:128,554,281	T/A	—	uncertain significance
rs117754102	4:128,554,293	T/C	—	benign
rs536665382	4:128,554,296	G/C	—	uncertain significance
rs2530873003	4:128,554,298	G/T	—	uncertain significance
rs374352207	4:128,554,303	G/C	—	likely benign
rs758891206	4:128,554,320	C/T	—	uncertain significance
rs1266012073	4:128,554,347	A/G	—	likely benign
rs370905905	4:128,554,351	A/C	—	likely benign
rs2255457	4:128,554,404	G/A	—	benign
rs747951280	4:128,564,672	A/G	—	likely benign
rs1727425195	4:128,564,678	A/C	—	uncertain significance
rs768605041	4:128,564,727	T/G	—	uncertain significance
rs537026447	4:128,564,741	G/A	—	uncertain significance
rs2530892080	4:128,564,745	G/A	—	likely benign
rs773232305	4:128,564,746	G/T	—	uncertain significance
rs2530892101	4:128,564,758	A/G	—	uncertain significance
rs1473182580	4:128,564,788	C/T	—	uncertain significance
rs528402455	4:128,564,789	A/C	—	uncertain significance
rs1727431574	4:128,564,796	G/C	—	uncertain significance
rs1157303070	4:128,564,799	C/T	—	likely benign
rs1464649752	4:128,564,812	A/C	—	uncertain significance
rs2530892219	4:128,564,824	G/A	—	uncertain significance
rs763044741	4:128,564,848	T/C	—	uncertain significance
rs1274668810	4:128,564,856	C/G	—	likely benign
rs2530892286	4:128,564,860	C/T	—	uncertain significance
rs1207836356	4:128,564,866	C/A	—	uncertain significance
rs150630801	4:128,564,885	G/C	—	uncertain significance
rs551896972	4:128,564,908	C/T	—	uncertain significance
rs139145791	4:128,564,909	G/A	—	uncertain significance
rs2530892385	4:128,564,912	G/A	—	likely benign
rs2530892410	4:128,564,925	T/A	—	uncertain significance
rs757940950	4:128,564,933	A/G	—	uncertain significance
rs143158055	4:128,564,936	A/G	—	conflicting classifications of pathogenicity
rs751047941	4:128,564,941	C/T	—	uncertain significance
rs755032881	4:128,564,946	A/G	—	likely benign
rs745930797	4:128,564,981	G/A	—	uncertain significance
rs554977722	4:128,564,984	T/G	—	uncertain significance
rs764544744	4:128,564,998	C/T	—	uncertain significance
rs776806585	4:128,564,999	G/A	—	uncertain significance
rs3749507	4:128,565,000	A/G	—	benign
rs752701739	4:128,565,032	A/G	—	uncertain significance
rs777628487	4:128,565,040	A/G	—	uncertain significance
rs371454539	4:128,565,044	T/A	—	uncertain significance
rs1727448341	4:128,565,046	A/G	—	uncertain significance
rs892735186	4:128,565,073	C/T	—	likely benign
rs770757870	4:128,565,119	G/A	—	uncertain significance
rs774117110	4:128,565,126	C/T	—	likely benign
rs148393226	4:128,565,136	G/A	—	uncertain significance
rs375821902	4:128,565,145	G/A	—	uncertain significance
rs970762611	4:128,565,147	G/C	—	uncertain significance
rs61744998	4:128,565,154	G/A	—	uncertain significance
rs150944428	4:128,565,180	A/T	—	likely benign
rs140900658	4:128,565,188	T/C	—	uncertain significance
rs781529517	4:128,565,192	G/T	—	likely benign
rs760071135	4:128,565,196	G/A	—	uncertain significance
rs146720875	4:128,565,197	G/A	—	uncertain significance
rs181743661	4:128,568,966	C/T	intron variant	—
rs75447657	4:128,577,590	T/G	—	benign
rs56223823	4:128,577,775	G/C	—	likely benign
rs376956929	4:128,577,778	A/T	—	likely benign
rs761746987	4:128,577,781	C/A	—	likely benign
rs369166911	4:128,577,796	G/A	—	uncertain significance
rs762715545	4:128,577,805	G/T	—	uncertain significance
rs914229630	4:128,577,812	A/G	—	uncertain significance
rs58739356	4:128,577,820	G/A	—	uncertain significance
rs551295272	4:128,577,845	G/C	—	uncertain significance
rs895367636	4:128,577,884	C/A	—	likely benign
rs373962158	4:128,577,888	C/G	—	likely benign
rs564504264	4:128,577,896	A/G	—	likely benign
rs72616924	4:128,584,504	G/A	—	benign
rs184818825	4:128,584,517	A/T	—	likely benign
rs2530933666	4:128,584,532	A/C	—	likely benign
rs561534751	4:128,584,559	A/G	—	likely benign
rs140355383	4:128,584,567	T/C	—	uncertain significance
rs759352629	4:128,584,578	A/T	—	uncertain significance
rs4833380	4:128,584,580	G/A	—	benign
rs373900644	4:128,584,593	C/T	stop gained	pathogenic
rs1386933326	4:128,584,628	C/G	—	likely benign
rs35147318	4:128,584,661	C/T	—	benign
rs2530934070	4:128,584,698	T/C	—	uncertain significance
rs755707760	4:128,584,707	C/G	—	uncertain significance
rs777329660	4:128,584,715	C/T	—	likely benign
rs778878575	4:128,584,724	A/G	—	likely benign
rs143236402	4:128,590,202	T/G	—	likely benign
rs2530945247	4:128,590,213	C/T	—	uncertain significance
rs192164921	4:128,590,219	C/T	—	uncertain significance
rs2530945283	4:128,590,238	T/C	—	likely benign
rs139082309	4:128,590,245	G/A	—	uncertain significance
rs1037828930	4:128,590,281	G/T	stop gained	pathogenic
rs1728815957	4:128,590,303	T/C	—	uncertain significance

Showing 100 of 282 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.