KANK1

KN motif and ankyrin repeat domains 1

Summary

The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

Known Variants734 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs143333759	9:504,546	G/A	regulatory region variant	—
rs139419666	9:517,171	G/A	intron variant	—
rs7027930	9:565,917	T/C	regulatory region variant	—
rs10975200	9:571,085	A/G	intron variant	—
rs12684488	9:571,582	T/A	—	—
rs58525255	9:583,664	A/G	intron variant	—
rs58845489	9:628,519	C/T	—	—
rs12337056	9:628,670	C/G	—	—
rs59757115	9:628,941	A/G	intron variant	—
rs145848128	9:635,964	C/G	intron variant	—
rs12341226	9:635,998	A/G	intron variant	—
rs16922302	9:672,920	G/C	downstream gene variant	—
rs572179075	9:673,351	A/C	—	—
rs1570475	9:676,569	C/T	—	benign
rs9407353	9:676,571	T/C	—	benign
rs16922383	9:676,646	A/G	—	likely benign
rs9407354	9:676,692	T/C	—	benign
rs12685890	9:676,704	C/T	—	benign
rs10975740	9:676,741	A/G	—	benign
rs12685605	9:676,745	A/G	—	benign
rs1570474	9:676,820	A/G	—	benign
rs2296055	9:676,954	T/C	—	benign
rs1485932719	9:676,973	A/T	—	uncertain significance
rs2538596387	9:676,980	A/G	—	uncertain significance
rs144137079	9:676,981	C/T	—	likely benign
rs752999934	9:676,986	C/G	—	uncertain significance
rs144467559	9:676,988	A/G	—	likely benign
rs751858070	9:676,996	C/T	—	likely benign
rs140469008	9:677,007	C/T	—	uncertain significance
rs1816547035	9:677,018	G/C	—	likely benign
rs75543046	9:677,089	G/A	—	benign
rs2296054	9:677,141	A/G	—	benign
rs16922407	9:677,211	C/G	—	likely benign
rs12352279	9:678,837	T/C	intron variant	—
rs12004436	9:683,430	C/G	—	—
rs1323262	9:684,096	G/A	—	—
rs117489690	9:707,443	G/A	—	likely benign
rs139575369	9:708,269	T/G	—	benign
rs867268407	9:710,626	A/C	—	likely benign
rs2361113	9:710,630	C/A	—	benign
rs10975975	9:710,640	C/A	—	benign
rs77195043	9:710,653	C/T	—	likely benign
rs2539662455	9:710,788	T/G	—	likely benign
rs754697149	9:710,802	A/T	—	uncertain significance
rs770900793	9:710,812	G/C	—	uncertain significance
rs61737970	9:710,818	G/A	—	likely benign
rs1306959059	9:710,825	G/A	—	uncertain significance
rs775781671	9:710,832	C/T	—	likely benign
rs774462174	9:710,854	C/T	—	uncertain significance
rs151056048	9:710,859	C/T	—	likely benign
rs183362306	9:710,861	T/C	—	conflicting classifications of pathogenicity
rs773548788	9:710,869	A/G	—	conflicting classifications of pathogenicity
rs761236001	9:710,872	C/T	—	uncertain significance
rs764764551	9:710,887	C/T	—	likely benign
rs2539667462	9:710,890	G/A	—	uncertain significance
rs1564032190	9:710,896	G/T	—	uncertain significance
rs1474029263	9:710,904	C/T	—	likely benign
rs746798023	9:710,906	A/G	—	uncertain significance
rs781256675	9:710,910	T/G	—	uncertain significance
rs745774146	9:710,914	G/T	—	uncertain significance
rs61737971	9:710,915	A/T	—	uncertain significance
rs201262082	9:710,917	G/A	—	conflicting classifications of pathogenicity
rs761003234	9:710,923	C/A	—	uncertain significance
rs117914490	9:710,949	G/A	—	likely benign
rs371506094	9:710,957	A/G	—	uncertain significance
rs201438936	9:710,961	G/A	—	benign
rs1283924834	9:710,962	A/G	—	uncertain significance
rs142861819	9:710,963	G/A	—	uncertain significance
rs7860464	9:710,966	G/A	—	likely benign
rs2539670503	9:710,971	C/T	—	uncertain significance
rs61737969	9:710,972	C/G	—	uncertain significance
rs572271218	9:710,973	G/A	—	likely benign
rs1470266738	9:710,974	T/C	—	uncertain significance
rs776996143	9:710,977	G/A	—	uncertain significance
rs2539671145	9:710,982	A/G	—	likely benign
rs751291333	9:710,985	C/T	—	likely benign
rs138546034	9:710,987	C/T	—	conflicting classifications of pathogenicity
rs767269190	9:710,992	C/T	—	conflicting classifications of pathogenicity
rs143368107	9:711,021	A/G	—	uncertain significance
rs1394287968	9:711,026	C/A	—	uncertain significance
rs143882652	9:711,030	C/T	—	likely benign
rs2539673778	9:711,031	A/G	—	uncertain significance
rs2539673857	9:711,032	C/A	—	uncertain significance
rs761736070	9:711,033	T/A	—	uncertain significance
rs747245921	9:711,036	A/C	—	uncertain significance
rs771172011	9:711,037	T/A	—	uncertain significance
rs148628393	9:711,053	A/G	—	uncertain significance
rs375587833	9:711,056	G/C	—	uncertain significance
rs867613057	9:711,064	A/G	—	uncertain significance
rs200547991	9:711,068	A/G	—	conflicting classifications of pathogenicity
rs200846414	9:711,079	A/G	—	uncertain significance
rs141194618	9:711,089	T/G	—	uncertain significance
rs1165992354	9:711,091	G/A	—	uncertain significance
rs751635469	9:711,101	A/C	—	uncertain significance
rs113951662	9:711,112	A/G	—	likely benign
rs1417349567	9:711,122	C/G	—	uncertain significance
rs769259053	9:711,130	C/A	—	uncertain significance
rs772924297	9:711,146	C/T	—	uncertain significance
rs1554696232	9:711,151	C/T	—	uncertain significance
rs200460515	9:711,152	T/C	—	uncertain significance

Showing 100 of 734 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.