CABIN1

calcineurin binding protein 1

Summary

Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]

Known Variants241 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs183532519	22:24,406,418	C/T	regulatory region variant	—
rs186277240	22:24,428,015	C/T	intron variant	—
rs199800229	22:24,432,541	G/A	—	uncertain significance
rs148623569	22:24,432,578	T/G	—	benign
rs201341706	22:24,434,850	C/T	—	uncertain significance
rs780301447	22:24,437,598	C/T	—	likely benign
rs201246299	22:24,437,704	A/G	—	uncertain significance
rs2282475	22:24,438,047	A/G	—	benign
rs752450455	22:24,439,358	G/A	—	likely benign
rs751307205	22:24,439,450	C/T	—	uncertain significance
rs146817070	22:24,439,451	G/A	—	uncertain significance
rs748454223	22:24,439,475	G/A	—	uncertain significance
rs772175109	22:24,439,484	C/A	—	uncertain significance
rs113821838	22:24,441,586	C/T	intron variant	—
rs751821688	22:24,445,648	C/T	—	uncertain significance
rs2517669600	22:24,445,661	C/T	—	uncertain significance
rs143784101	22:24,446,880	C/T	intron variant	—
rs760553839	22:24,447,295	C/T	—	uncertain significance
rs17004823	22:24,447,303	G/A	—	benign
rs560025941	22:24,447,370	G/A	—	uncertain significance
rs2517714237	22:24,447,379	T/C	—	uncertain significance
rs765880337	22:24,447,396	G/A	—	uncertain significance
rs758954607	22:24,447,401	G/A	—	likely benign
rs139323525	22:24,450,106	C/T	intron variant	—
rs2073396	22:24,451,035	A/G	—	benign
rs760781644	22:24,451,368	T/C	—	uncertain significance
rs76760361	22:24,451,381	C/T	—	likely benign
rs2517818935	22:24,451,398	C/G	—	uncertain significance
rs573408065	22:24,451,401	G/A	—	uncertain significance
rs759898543	22:24,451,415	A/G	—	uncertain significance
rs1428671717	22:24,451,424	G/A	—	uncertain significance
rs151139397	22:24,451,454	C/A	—	uncertain significance
rs749930210	22:24,451,458	T/C	—	likely benign
rs1281114471	22:24,451,469	A/G	—	likely benign
rs75073100	22:24,451,504	C/A	—	benign
rs146248697	22:24,451,529	G/T	—	uncertain significance
rs201376301	22:24,451,580	C/G	—	uncertain significance
rs756297626	22:24,451,591	T/A	—	uncertain significance
rs140239066	22:24,451,612	C/T	—	likely benign
rs139342359	22:24,452,690	G/T	—	uncertain significance
rs1601823350	22:24,452,743	T/G	—	likely benign
rs201495297	22:24,452,804	A/G	—	likely benign
rs181541560	22:24,452,833	A/G	—	likely benign
rs2070467	22:24,452,885	A/G	—	benign
rs117501063	22:24,455,635	A/G	regulatory region variant	—
rs9624392	22:24,455,905	G/C	—	benign
rs139493223	22:24,456,430	C/T	—	likely benign
rs201606398	22:24,456,455	C/T	—	benign
rs140878813	22:24,456,473	G/A	—	likely benign
rs769744330	22:24,456,497	C/T	—	uncertain significance
rs541994402	22:24,456,527	G/A	—	likely benign
rs7286120	22:24,456,708	T/C	—	benign
rs2039227600	22:24,458,473	G/A	—	uncertain significance
rs17004826	22:24,459,401	C/T	—	benign
rs762285287	22:24,459,428	C/G	—	uncertain significance
rs762273	22:24,459,438	T/T	—	benign
rs759214213	22:24,459,454	A/G	—	uncertain significance
rs752716486	22:24,459,455	A/G	—	uncertain significance
rs756377802	22:24,459,487	C/T	—	uncertain significance
rs148993538	22:24,459,534	C/T	—	likely benign
rs143758897	22:24,459,571	C/T	—	uncertain significance
rs373229152	22:24,459,602	C/T	—	uncertain significance
rs2039401791	22:24,460,504	A/G	—	uncertain significance
rs370711209	22:24,460,526	A/C	—	uncertain significance
rs759574277	22:24,460,570	G/A	—	uncertain significance
rs9624395	22:24,460,593	C/A	—	benign
rs567239001	22:24,460,607	G/A	—	uncertain significance
rs112402376	22:24,460,790	C/T	—	benign
rs200973010	22:24,462,938	A/G	—	uncertain significance
rs2518199563	22:24,463,055	A/G	—	uncertain significance
rs149511898	22:24,463,092	C/T	—	uncertain significance
rs62642523	22:24,463,123	T/G	—	benign
rs148225962	22:24,466,760	C/T	—	uncertain significance
rs751228495	22:24,466,764	G/A	—	uncertain significance
rs2518297330	22:24,466,770	A/G	—	uncertain significance
rs147374271	22:24,466,912	C/T	—	likely benign
rs373391651	22:24,466,920	A/G	—	uncertain significance
rs544550589	22:24,466,943	G/C	—	uncertain significance
rs62231971	22:24,466,964	C/T	—	likely benign
rs4822472	22:24,468,123	C/A	—	benign
rs34626155	22:24,468,346	C/G	—	likely benign
rs541347512	22:24,468,352	G/A	—	uncertain significance
rs111573595	22:24,468,360	A/C	—	benign
rs758937314	22:24,468,385	C/T	—	uncertain significance
rs17854874	22:24,468,386	G/A	—	benign
rs142541555	22:24,468,448	C/T	—	benign
rs201926665	22:24,468,452	C/T	—	uncertain significance
rs73165710	22:24,469,786	T/A	intron variant	—
rs1022801215	22:24,471,969	C/A	—	benign
rs2518476518	22:24,472,142	C/T	—	uncertain significance
rs58044582	22:24,472,173	C/T	—	benign
rs2283807	22:24,472,270	A/G	—	benign
rs529389498	22:24,476,800	T/C	—	—
rs149965767	22:24,479,178	C/T	—	likely benign
rs12166151	22:24,479,193	C/G	—	benign
rs775263871	22:24,479,332	C/T	—	uncertain significance
rs4820581	22:24,480,503	G/A	—	benign
rs750333151	22:24,480,535	G/A	—	uncertain significance
rs779193677	22:24,480,542	T/C	—	uncertain significance
rs948475816	22:24,480,639	C/T	—	likely benign

Showing 100 of 241 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.