CTBP1

C-terminal binding protein 1

Summary

This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Known Variants238 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs763759376	4:1,206,041	C/T	—	uncertain significance
rs2108694983	4:1,206,044	G/T	—	uncertain significance
rs757056389	4:1,206,046	G/A	—	likely benign
rs926950501	4:1,206,049	G/A	—	likely benign
rs532821312	4:1,206,058	C/T	—	likely benign
rs200540863	4:1,206,059	G/A	—	uncertain significance
rs1271593874	4:1,206,061	C/T	—	likely benign
rs748609943	4:1,206,072	C/T	—	uncertain significance
rs199614101	4:1,206,089	G/A	—	conflicting classifications of pathogenicity
rs1453823824	4:1,206,094	G/A	—	likely benign
rs369644553	4:1,206,100	C/G	—	likely benign
rs377619487	4:1,206,104	T/A	—	likely benign
rs1372176539	4:1,206,107	G/A	—	uncertain significance
rs775743153	4:1,206,109	C/A	—	likely benign
rs369652853	4:1,206,112	A/T	—	likely benign
rs764108337	4:1,206,115	G/C	—	likely benign
rs1253462797	4:1,206,123	C/T	—	uncertain significance
rs758690207	4:1,206,124	G/A	—	likely benign
rs137891531	4:1,206,127	G/T	—	likely benign
rs750024621	4:1,206,130	C/T	—	likely benign
rs899857673	4:1,206,150	C/T	—	uncertain significance
rs566988702	4:1,206,165	C/A	—	uncertain significance
rs2535013212	4:1,206,168	C/G	—	uncertain significance
rs2535013272	4:1,206,174	T/C	—	uncertain significance
rs1728629189	4:1,206,181	G/A	—	likely benign
rs1728631739	4:1,206,193	C/T	—	likely benign
rs1274014857	4:1,206,196	C/A	—	likely benign
rs1009692881	4:1,206,198	C/T	—	uncertain significance
rs140595665	4:1,206,199	G/T	—	likely benign
rs1232025451	4:1,206,202	C/T	—	likely benign
rs2535013671	4:1,206,208	G/A	—	likely benign
rs2535013745	4:1,206,218	G/T	—	likely benign
rs200654731	4:1,206,682	G/A	—	likely benign
rs754325550	4:1,206,689	G/A	—	likely benign
rs757736562	4:1,206,692	C/T	—	likely benign
rs2535018077	4:1,206,706	G/T	—	likely benign
rs780391436	4:1,206,711	C/T	—	uncertain significance
rs7687296	4:1,206,732	C/T	—	uncertain significance
rs138269585	4:1,206,735	C/T	—	likely benign
rs367988327	4:1,206,736	G/A	—	likely benign
rs762735833	4:1,206,738	C/T	—	uncertain significance
rs112982065	4:1,206,739	G/A	—	likely benign
rs2535018418	4:1,206,742	G/C	—	uncertain significance
rs1423221448	4:1,206,753	C/T	—	uncertain significance
rs528659787	4:1,206,763	G/A	—	likely benign
rs757726580	4:1,206,765	C/T	—	uncertain significance
rs374246733	4:1,206,766	G/A	—	likely benign
rs2535018611	4:1,206,769	T/C	—	likely benign
rs1028546796	4:1,206,787	G/C	—	likely benign
rs1369976635	4:1,206,805	G/A	—	likely benign
rs869320802	4:1,206,816	G/A	missense variant	pathogenic
rs748160686	4:1,206,818	C/G	—	uncertain significance
rs2535018963	4:1,206,821	G/A	—	uncertain significance
rs769926218	4:1,206,824	A/G	—	likely benign
rs547246494	4:1,206,832	G/A	—	likely benign
rs777658399	4:1,206,834	G/A	—	likely benign
rs375479004	4:1,207,246	C/T	—	likely benign
rs368766407	4:1,207,247	G/A	—	benign
rs755425614	4:1,207,250	C/T	—	likely benign
rs74366429	4:1,207,253	C/T	—	benign
rs200023219	4:1,207,259	C/T	—	likely benign
rs200372566	4:1,207,260	G/A	—	uncertain significance
rs749187606	4:1,207,270	G/A	—	likely benign
rs2535023214	4:1,207,286	T/G	—	uncertain significance
rs758441543	4:1,207,294	C/T	—	likely benign
rs778712973	4:1,207,312	G/A	—	likely benign
rs201553288	4:1,207,327	G/A	—	likely benign
rs760425578	4:1,207,348	G/A	—	likely benign
rs2108702392	4:1,207,361	T/C	—	uncertain significance
rs369272423	4:1,207,380	G/A	—	uncertain significance
rs759785991	4:1,207,397	G/C	—	likely benign
rs2535024377	4:1,207,402	A/G	—	likely benign
rs1471758405	4:1,207,413	G/A	—	likely benign
rs772651450	4:1,208,120	C/T	—	likely benign
rs779471017	4:1,208,124	G/C	—	uncertain significance
rs369443231	4:1,208,125	G/A	—	uncertain significance
rs1358314263	4:1,208,126	G/A	—	benign
rs761023871	4:1,208,128	C/T	—	uncertain significance
rs2535033220	4:1,208,132	T/C	—	uncertain significance
rs2535033257	4:1,208,137	G/A	—	uncertain significance
rs764484563	4:1,208,142	C/T	—	likely benign
rs1577014558	4:1,208,143	G/A	—	uncertain significance
rs746419297	4:1,208,148	G/A	—	likely benign
rs766411525	4:1,208,163	C/T	—	likely benign
rs1031166870	4:1,208,165	C/T	—	uncertain significance
rs557237647	4:1,208,166	G/A	—	likely benign
rs149624625	4:1,208,169	G/A	—	likely benign
rs2108706843	4:1,208,170	C/T	—	uncertain significance
rs147301141	4:1,208,202	C/T	—	likely benign
rs777093230	4:1,208,203	G/A	—	uncertain significance
rs748822104	4:1,208,209	T/C	—	uncertain significance
rs1315137495	4:1,208,227	C/T	—	uncertain significance
rs1290217261	4:1,208,228	G/A	—	uncertain significance
rs747567252	4:1,208,232	T/C	—	likely benign
rs761879195	4:1,208,250	C/A	—	likely benign
rs1183722087	4:1,208,271	A/G	—	likely benign
rs375698451	4:1,208,272	T/G	—	likely benign
rs774579302	4:1,209,766	C/T	—	likely benign
rs767549924	4:1,209,787	C/T	—	conflicting classifications of pathogenicity
rs143129857	4:1,209,788	G/A	—	likely benign

Showing 100 of 238 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.