CUX1

cut like homeobox 1

Summary

The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]

Known Variants314 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1224246553	7:101,459,322	T/C	—	likely benign
rs1219523928	7:101,459,348	A/G	—	uncertain significance
rs1562875556	7:101,459,371	C/T	—	likely pathogenic
rs1791729069	7:101,459,374	G/A	—	conflicting classifications of pathogenicity
rs761227961	7:101,459,376	C/T	—	uncertain significance
rs139141690	7:101,499,930	G/A	regulatory region variant	—
rs71559437	7:101,552,440	G/A	intron variant	—
rs1804171761	7:101,559,417	C/T	—	uncertain significance
rs771176824	7:101,559,461	C/T	—	uncertain significance
rs748511869	7:101,559,493	G/C	—	uncertain significance
rs56091128	7:101,559,513	G/A	—	benign
rs1023489659	7:101,640,964	G/A	—	—
rs10279171	7:101,663,639	A/C	—	—
rs13243790	7:101,666,868	T/A	—	—
rs143267032	7:101,671,397	C/G	—	uncertain significance
rs421168	7:101,693,884	G/T	—	—
rs401966	7:101,695,817	C/A	—	—
rs141588580	7:101,699,589	G/A	—	—
rs7796231	7:101,706,691	C/G	—	—
rs412332	7:101,707,518	C/T	regulatory region variant	—
rs377612	7:101,713,590	T/C	—	benign
rs2536316406	7:101,713,617	A/G	—	pathogenic
rs148322402	7:101,713,691	G/A	missense variant	likely benign
rs1825996355	7:101,713,698	G/A	—	likely pathogenic
rs372321	7:101,721,006	G/A	intron variant	—
rs73185898	7:101,727,633	C/G	intron variant	—
rs201438	7:101,735,236	G/A	intron variant	—
rs1637257	7:101,740,606	T/G	—	benign
rs1734879	7:101,740,610	C/A	—	benign
rs782042708	7:101,740,650	T/C	—	uncertain significance
rs1042943750	7:101,740,733	G/A	—	uncertain significance
rs371126154	7:101,740,769	G/A	—	likely benign
rs143157780	7:101,747,623	G/A	—	benign
rs201650660	7:101,747,638	A/G	—	likely benign
rs1830120716	7:101,747,663	A/G	—	uncertain significance
rs2536730692	7:101,747,666	C/G	—	uncertain significance
rs2536730751	7:101,747,670	A/C	—	uncertain significance
rs1554487735	7:101,747,688	T/C	—	uncertain significance
rs2536731225	7:101,747,691	C/A	—	uncertain significance
rs199800281	7:101,747,693	C/T	—	likely benign
rs1554487751	7:101,747,705	C/G	—	uncertain significance
rs2536731561	7:101,747,707	G/T	—	uncertain significance
rs2130987702	7:101,747,740	G/A	—	likely pathogenic
rs2536824991	7:101,754,983	T/C	—	uncertain significance
rs2536825046	7:101,754,985	C/T	—	pathogenic
rs2131075290	7:101,754,997	A/G	—	uncertain significance
rs2536825336	7:101,754,998	T/G	—	uncertain significance
rs782419510	7:101,755,024	G/A	—	uncertain significance
rs9655774	7:101,755,060	A/G	—	benign
rs201495	7:101,755,522	C/T	intron variant	—
rs187519642	7:101,758,502	G/A	—	likely benign
rs149507748	7:101,758,533	C/T	—	likely benign
rs78218172	7:101,758,564	T/C	—	benign
rs201501	7:101,758,584	G/A	—	benign
rs201530	7:101,777,382	A/G	intron variant	—
rs782292066	7:101,801,841	G/A	—	likely benign
rs2484681275	7:101,801,856	A/G	—	uncertain significance
rs2484681871	7:101,801,886	C/A	—	uncertain significance
rs365836	7:101,809,851	A/G	downstream gene variant	—
rs12538988	7:101,810,359	C/A	downstream gene variant	—
rs2131685158	7:101,813,764	G/C	—	likely pathogenic
rs782797697	7:101,813,778	C/T	—	uncertain significance
rs180828525	7:101,813,779	G/A	—	likely benign
rs143307709	7:101,813,827	C/T	—	likely benign
rs563766526	7:101,813,828	G/A	—	uncertain significance
rs150319411	7:101,815,215	G/A	intron variant	—
rs1586067642	7:101,821,795	T/A	—	pathogenic
rs782110833	7:101,821,800	G/A	—	uncertain significance
rs782261753	7:101,821,857	C/T	—	uncertain significance
rs367848953	7:101,821,861	C/T	—	uncertain significance
rs2485005931	7:101,821,872	G/T	—	likely pathogenic
rs151118398	7:101,821,880	G/A	—	likely benign
rs188599171	7:101,823,830	G/T	—	—
rs111998532	7:101,824,316	T/G	intron variant	—
rs373425128	7:101,833,160	G/A	—	likely benign
rs2230104	7:101,837,149	G/A	—	benign
rs782320090	7:101,837,153	G/C	—	uncertain significance
rs2485298743	7:101,838,806	A/G	—	uncertain significance
rs782684624	7:101,838,817	C/A	—	likely benign
rs1265377432	7:101,839,952	C/T	—	uncertain significance
rs1554518422	7:101,839,974	C/T	—	uncertain significance
rs200423314	7:101,839,979	C/G	—	likely benign
rs782593141	7:101,839,981	T/A	—	likely benign
rs782792685	7:101,840,005	G/C	—	likely benign
rs2485334767	7:101,840,009	G/T	—	uncertain significance
rs782435188	7:101,840,010	A/C	—	uncertain significance
rs781827512	7:101,840,039	C/A	—	uncertain significance
rs1212077259	7:101,840,052	C/T	—	uncertain significance
rs147066011	7:101,840,096	A/G	—	likely benign
rs138249494	7:101,840,146	G/A	—	likely benign
rs2485340287	7:101,840,182	G/A	—	uncertain significance
rs2485341510	7:101,840,229	G/T	—	uncertain significance
rs1794867368	7:101,840,249	C/T	—	pathogenic
rs556721676	7:101,840,271	C/T	—	uncertain significance
rs936711780	7:101,840,285	A/G	—	uncertain significance
rs199819569	7:101,840,323	C/G	—	uncertain significance
rs376833286	7:101,840,324	G/A	—	conflicting classifications of pathogenicity
rs782123498	7:101,840,332	G/T	—	uncertain significance
rs114193404	7:101,840,335	C/T	—	likely benign
rs148059700	7:101,840,344	G/A	—	likely benign

Showing 100 of 314 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.