DKC1

dyskerin pseudouridine synthase 1

Summary

This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Known Variants391 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs5987020	X:153,990,735	C/G	—	benign
rs189080591	X:153,990,899	A/G	—	likely benign
rs782519189	X:153,991,070	A/T	—	uncertain significance
rs199422241	X:153,991,099	C/G	—	pathogenic
rs782436792	X:153,991,167	G/A	—	uncertain significance
rs900389845	X:153,991,171	C/G	—	uncertain significance
rs1569558417	X:153,991,182	G/T	—	uncertain significance
rs782563126	X:153,991,222	G/C	—	benign
rs121912303	X:153,991,245	C/T	missense variant	pathogenic
rs2523673286	X:153,991,252	G/A	—	likely benign
rs1242996115	X:153,991,261	G/A	—	uncertain significance
rs782663560	X:153,991,263	G/A	—	likely benign
rs1603429319	X:153,991,264	C/T	—	likely benign
rs2071699416	X:153,991,266	G/T	—	likely benign
rs2523673343	X:153,991,267	C/T	—	likely benign
rs1487157701	X:153,991,274	C/G	—	likely benign
rs2728530	X:153,991,458	C/T	—	benign
rs184546407	X:153,991,475	C/T	—	likely benign
rs782695290	X:153,991,658	G/A	—	likely benign
rs1603429348	X:153,991,848	C/G	—	pathogenic
rs1814542779	X:153,993,158	G/A	—	likely benign
rs2148509118	X:153,993,164	G/A	—	likely benign
rs2523677668	X:153,993,165	T/A	—	likely benign
rs2071726426	X:153,993,167	T/A	—	likely benign
rs782343800	X:153,993,177	T/C	—	conflicting classifications of pathogenicity
rs1603429384	X:153,993,178	T/A	—	likely benign
rs199422242	X:153,993,186	C/T	missense variant	not provided
rs1557263983	X:153,993,187	A/G	—	likely benign
rs781936419	X:153,993,193	A/G	—	likely benign
rs782044075	X:153,993,196	T/C	—	likely benign
rs376632263	X:153,993,198	A/G	—	conflicting classifications of pathogenicity
rs2523677775	X:153,993,199	G/A	—	likely benign
rs782010351	X:153,993,212	C/G	—	uncertain significance
rs1177007176	X:153,993,216	A/G	—	likely benign
rs782389383	X:153,993,219	C/T	—	uncertain significance
rs781849751	X:153,993,221	T/G	—	uncertain significance
rs2148509183	X:153,993,222	T/C	—	uncertain significance
rs2523677862	X:153,993,224	C/A	—	uncertain significance
rs2148509194	X:153,993,227	G/A	—	uncertain significance
rs2148509198	X:153,993,232	A/T	—	uncertain significance
rs142474971	X:153,993,241	C/T	—	conflicting classifications of pathogenicity
rs782718798	X:153,993,251	A/T	—	likely benign
rs781794417	X:153,993,254	G/C	—	likely benign
rs1765212821	X:153,993,257	T/A	—	likely benign
rs199975650	X:153,993,260	G/T	—	benign
rs45627635	X:153,993,479	A/G	—	likely benign
rs2071732655	X:153,993,701	A/G	—	likely benign
rs782381308	X:153,993,714	C/T	—	likely benign
rs782787521	X:153,993,715	G/A	—	likely benign
rs2523679176	X:153,993,722	A/G	—	uncertain significance
rs2523679185	X:153,993,724	A/C	—	likely benign
rs137854491	X:153,993,725	C/G	missense variant	pathogenic
rs782094431	X:153,993,727	A/G	—	likely benign
rs1557264045	X:153,993,730	C/T	—	likely benign
rs372511229	X:153,993,731	G/A	—	uncertain significance
rs2523679230	X:153,993,733	T/C	—	likely benign
rs121912293	X:153,993,740	T/G	missense variant	pathogenic
rs28936072	X:153,993,747	T/C	missense variant	pathogenic
rs2523679280	X:153,993,748	C/G	—	likely pathogenic
rs121912296	X:153,993,749	A/G	missense variant	not provided
rs121912292	X:153,993,753	C/G	missense variant	pathogenic
rs121912302	X:153,993,755	G/A	missense variant	uncertain significance
rs2148509477	X:153,993,760	C/G	—	likely benign
rs199422243	X:153,993,761	A/G	missense variant	not provided
rs2071733846	X:153,993,767	G/A	—	likely pathogenic
rs369777662	X:153,993,772	G/A	—	benign
rs2071733946	X:153,993,776	G/A	—	uncertain significance
rs121912304	X:153,993,780	C/T	missense variant	pathogenic
rs782504034	X:153,993,781	G/A	—	likely benign
rs1569558474	X:153,993,783	C/A	—	likely pathogenic
rs2148509505	X:153,993,793	C/T	—	likely benign
rs2071734340	X:153,993,813	G/A	—	likely benign
rs1033528226	X:153,993,821	C/G	—	likely benign
rs781888016	X:153,993,822	G/A	—	likely benign
rs782236324	X:153,994,169	C/T	—	likely benign
rs376783942	X:153,994,170	G/C	—	likely benign
rs2523680390	X:153,994,186	T/C	—	uncertain significance
rs2523680394	X:153,994,199	T/G	—	pathogenic
rs2071739379	X:153,994,201	T/G	—	conflicting classifications of pathogenicity
rs121912301	X:153,994,204	G/C	missense variant	not provided
rs121912297	X:153,994,206	A/G	missense variant	pathogenic
rs2523680452	X:153,994,207	C/T	—	likely pathogenic
rs1557264100	X:153,994,209	A/G	—	uncertain significance
rs199422244	X:153,994,210	C/T	missense variant	not provided
rs1557264102	X:153,994,213	A/G	—	pathogenic
rs199422245	X:153,994,214	C/A	missense variant	likely pathogenic
rs1441318128	X:153,994,217	T/C	—	benign
rs2523680499	X:153,994,221	C/T	—	uncertain significance
rs121912306	X:153,994,224	C/T	—	not provided
rs1036932842	X:153,994,229	A/G	—	likely benign
rs2148509751	X:153,994,230	T/C	—	uncertain significance
rs2523680603	X:153,994,253	A/G	—	likely benign
rs897094414	X:153,994,254	G/C	—	uncertain significance
rs1557264111	X:153,994,262	G/A	—	likely benign
rs2148509772	X:153,994,263	G/A	—	conflicting classifications of pathogenicity
rs2523680672	X:153,994,267	A/G	—	uncertain significance
rs782202263	X:153,994,269	A/G	—	uncertain significance
rs782317228	X:153,994,272	A/C	—	likely benign
rs2071741038	X:153,994,279	T/C	—	uncertain significance
rs2523680725	X:153,994,280	G/T	—	likely benign

Showing 100 of 391 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.