TTLL5

tubulin tyrosine ligase like 5

Summary

This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]

Known Variants833 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs745443275	14:76,129,496	C/G	—	uncertain significance
rs755802095	14:76,129,501	C/G	—	uncertain significance
rs1467031622	14:76,129,505	A/T	—	uncertain significance
rs747924529	14:76,129,517	C/G	—	uncertain significance
rs1002516091	14:76,129,519	G/A	—	likely benign
rs201704357	14:76,129,532	T/C	—	uncertain significance
rs369916219	14:76,129,543	G/C	—	uncertain significance
rs1337606986	14:76,129,544	G/A	—	uncertain significance
rs776534405	14:76,129,545	A/G	—	uncertain significance
rs2140074461	14:76,129,552	G/T	—	uncertain significance
rs758975249	14:76,129,569	A/G	—	uncertain significance
rs751971515	14:76,129,572	T/G	—	uncertain significance
rs748725015	14:76,129,584	T/C	—	likely benign
rs724743	14:76,129,591	A/G	regulatory region variant	—
rs746853498	14:76,135,749	G/A	—	likely benign
rs574913177	14:76,135,751	C/T	—	likely benign
rs759523095	14:76,135,753	T/G	—	uncertain significance
rs117173802	14:76,135,756	T/C	—	likely benign
rs1314926139	14:76,135,757	A/G	—	likely pathogenic
rs1367413347	14:76,135,761	A/G	—	uncertain significance
rs1207808142	14:76,135,770	G/A	—	uncertain significance
rs139124485	14:76,135,776	T/C	—	uncertain significance
rs2504215863	14:76,135,779	G/A	—	pathogenic
rs2504215887	14:76,135,784	G/A	—	uncertain significance
rs1049723430	14:76,135,787	G/A	—	uncertain significance
rs144141238	14:76,135,811	G/T	—	uncertain significance
rs1004624962	14:76,135,813	A/G	—	likely benign
rs570513349	14:76,135,822	C/T	—	likely benign
rs777806616	14:76,135,823	G/T	—	uncertain significance
rs540867894	14:76,135,825	C/T	—	likely benign
rs770160766	14:76,135,846	C/T	—	likely benign
rs763162558	14:76,135,856	G/T	—	uncertain significance
rs1391083901	14:76,135,858	A/G	—	likely benign
rs2140090695	14:76,135,865	G/A	—	uncertain significance
rs117639142	14:76,135,869	C/T	—	benign
rs762077466	14:76,135,870	G/A	—	uncertain significance
rs1262993606	14:76,135,872	A/G	—	likely benign
rs2504216235	14:76,135,874	A/G	—	likely benign
rs546521756	14:76,135,883	C/G	—	likely benign
rs147225754	14:76,135,888	A/G	—	likely benign
rs1483184702	14:76,147,871	A/G	—	likely benign
rs1884611963	14:76,147,877	T/G	—	likely benign
rs2140117778	14:76,147,884	T/A	—	likely benign
rs948170380	14:76,147,890	C/T	—	uncertain significance
rs772480677	14:76,147,895	T/C	—	likely benign
rs1045431257	14:76,147,896	C/A	—	uncertain significance
rs2504274354	14:76,147,906	A/G	—	uncertain significance
rs761068583	14:76,147,914	G/T	—	uncertain significance
rs1439202144	14:76,147,917	C/T	—	pathogenic
rs775184984	14:76,147,918	G/A	—	uncertain significance
rs1212233539	14:76,147,924	A/G	—	uncertain significance
rs751047559	14:76,147,930	G/A	—	uncertain significance
rs369997391	14:76,147,938	C/T	—	uncertain significance
rs750217504	14:76,147,939	G/A	—	uncertain significance
rs2140117874	14:76,147,964	T/C	—	likely benign
rs1392147107	14:76,147,966	A/G	—	uncertain significance
rs765479385	14:76,147,970	A/G	—	uncertain significance
rs1163242822	14:76,147,971	G/A	—	pathogenic
rs373520758	14:76,147,988	A/G	—	likely benign
rs2140117924	14:76,147,990	C/T	—	likely benign
rs1477464	14:76,149,830	T/C	—	benign
rs147917101	14:76,149,846	G/T	—	benign
rs369130809	14:76,149,874	T/C	—	likely benign
rs1341853857	14:76,149,875	C/T	—	likely benign
rs201188044	14:76,149,881	G/C	—	likely benign
rs1230146916	14:76,149,883	C/G	—	likely benign
rs1884794433	14:76,149,890	C/G	—	uncertain significance
rs1884794944	14:76,149,901	A/G	—	likely benign
rs149084771	14:76,149,902	A/G	—	uncertain significance
rs747929606	14:76,149,903	G/A	—	uncertain significance
rs1884795213	14:76,149,906	G/C	—	uncertain significance
rs993836481	14:76,149,915	A/G	—	uncertain significance
rs142141819	14:76,149,924	T/C	—	uncertain significance
rs1469769763	14:76,149,929	A/C	—	uncertain significance
rs1884796366	14:76,149,939	A/G	—	uncertain significance
rs746255542	14:76,149,941	C/T	—	likely benign
rs768330018	14:76,149,947	C/G	—	uncertain significance
rs761381633	14:76,149,959	C/A	—	uncertain significance
rs151197710	14:76,149,960	G/A	—	uncertain significance
rs530653892	14:76,149,961	C/T	—	likely benign
rs2140122580	14:76,149,965	C/G	—	uncertain significance
rs2140122584	14:76,149,966	T/C	—	uncertain significance
rs567269087	14:76,149,970	T/G	—	likely benign
rs140479826	14:76,149,977	C/G	—	uncertain significance
rs142072074	14:76,149,982	A/G	—	benign
rs1884797826	14:76,149,983	G/A	—	uncertain significance
rs751664317	14:76,149,989	C/T	—	uncertain significance
rs1189428771	14:76,149,993	T/G	—	uncertain significance
rs2504286561	14:76,149,994	T/A	—	uncertain significance
rs1484442636	14:76,149,999	G/A	—	uncertain significance
rs1205402984	14:76,150,008	C/T	—	likely benign
rs1261501118	14:76,156,524	T/G	—	likely benign
rs138271588	14:76,156,540	A/C	—	uncertain significance
rs1489134570	14:76,156,541	T/C	—	likely benign
rs373045019	14:76,156,550	C/T	—	likely benign
rs762832841	14:76,156,551	C/T	—	uncertain significance
rs757381290	14:76,156,552	G/A	—	uncertain significance
rs533894435	14:76,156,561	G/A	—	uncertain significance
rs750828052	14:76,156,562	A/G	—	likely benign
rs587777470	14:76,156,564	—	—	pathogenic

Showing 100 of 833 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.