SCYL1

SCY1 like pseudokinase 1

Summary

This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants141 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs748526048	11:65,292,653	G/A	—	uncertain significance
rs2495844422	11:65,292,674	T/C	—	uncertain significance
rs924194619	11:65,292,675	C/T	—	likely benign
rs2495845269	11:65,292,698	T/C	—	likely benign
rs2495853163	11:65,293,035	C/T	—	likely benign
rs2495853731	11:65,293,058	C/T	—	uncertain significance
rs368523734	11:65,293,083	G/C	—	likely benign
rs1554967681	11:65,293,102	C/T	—	pathogenic
rs11548539	11:65,293,109	A/G	—	uncertain significance
rs1267093507	11:65,293,132	C/T	—	uncertain significance
rs373965208	11:65,293,201	C/T	—	likely benign
rs1554967761	11:65,293,395	G/T	—	pathogenic
rs374236882	11:65,293,412	C/T	—	likely benign
rs756722104	11:65,293,445	C/T	—	likely benign
rs753980779	11:65,293,452	G/A	—	uncertain significance
rs942522644	11:65,293,453	C/T	—	pathogenic
rs141488946	11:65,293,454	G/A	—	benign
rs55662663	11:65,293,463	G/A	—	benign
rs377002535	11:65,293,467	G/A	—	uncertain significance
rs78243061	11:65,293,512	G/A	—	likely benign
rs373601396	11:65,293,603	C/T	—	likely benign
rs755131489	11:65,293,618	—	—	pathogenic
rs771867385	11:65,293,619	G/C	—	uncertain significance
rs771481228	11:65,293,637	A/G	—	uncertain significance
rs757452756	11:65,293,663	C/T	—	likely benign
rs1282350048	11:65,293,667	G/A	—	uncertain significance
rs1320473430	11:65,293,670	C/T	—	pathogenic
rs571188091	11:65,293,681	G/C	—	likely benign
rs887226483	11:65,293,709	T/C	—	uncertain significance
rs114496618	11:65,293,714	G/A	—	likely benign
rs868783577	11:65,293,732	G/T	—	likely benign
rs535912271	11:65,293,745	A/T	—	pathogenic
rs367912230	11:65,293,779	C/T	—	uncertain significance
rs745499930	11:65,293,796	A/C	—	uncertain significance
rs200014873	11:65,293,803	G/A	—	benign
rs75169347	11:65,293,819	A/G	—	benign
rs200408408	11:65,294,285	A/C	—	uncertain significance
rs766462147	11:65,294,286	T/G	—	uncertain significance
rs2495881355	11:65,294,325	C/A	—	uncertain significance
rs757117609	11:65,294,330	C/G	—	uncertain significance
rs2495881655	11:65,294,335	C/T	—	likely benign
rs2495883473	11:65,294,418	A/G	—	likely benign
rs201043872	11:65,294,434	T/C	—	conflicting classifications of pathogenicity
rs148421552	11:65,294,524	G/A	—	uncertain significance
rs141670485	11:65,294,543	G/A	—	conflicting classifications of pathogenicity
rs201160219	11:65,294,551	G/A	—	uncertain significance
rs562713747	11:65,294,566	A/G	—	uncertain significance
rs57664614	11:65,294,598	C/A	—	benign
rs2495888223	11:65,294,600	A/G	—	likely benign
rs374644826	11:65,294,602	C/T	—	likely benign
rs36085849	11:65,295,181	C/A	—	—
rs77569865	11:65,296,639	G/A	intron variant	—
rs148220530	11:65,298,083	C/T	—	likely benign
rs369729088	11:65,298,115	G/A	—	uncertain significance
rs143168314	11:65,298,127	T/G	—	conflicting classifications of pathogenicity
rs1364556467	11:65,298,129	C/A	—	uncertain significance
rs376490432	11:65,298,141	G/A	—	likely benign
rs201108435	11:65,298,145	A/G	—	uncertain significance
rs200461019	11:65,298,147	G/C	—	uncertain significance
rs370521030	11:65,298,178	C/T	—	uncertain significance
rs367743932	11:65,298,208	G/A	—	uncertain significance
rs201604417	11:65,298,235	G/A	—	uncertain significance
rs769727244	11:65,298,240	C/T	—	likely benign
rs774217168	11:65,298,246	G/A	—	likely benign
rs572166450	11:65,298,663	C/G	—	—
rs771810546	11:65,299,065	G/A	—	uncertain significance
rs1855366408	11:65,299,077	C/T	—	pathogenic
rs374680296	11:65,299,126	G/A	—	uncertain significance
rs766077898	11:65,299,134	C/T	—	uncertain significance
rs764376000	11:65,299,135	G/A	—	uncertain significance
rs531408084	11:65,299,136	C/T	—	likely benign
rs187644314	11:65,299,141	G/A	—	likely benign
rs201554231	11:65,299,145	C/G	—	likely benign
rs201426628	11:65,299,148	G/A	—	benign
rs1481969607	11:65,300,162	G/A	—	likely pathogenic
rs768088214	11:65,300,260	G/A	—	uncertain significance
rs763690516	11:65,300,269	C/T	—	uncertain significance
rs750985349	11:65,300,270	G/A	—	likely benign
rs864309666	11:65,300,277	G/A	—	pathogenic
rs1144928	11:65,301,410	A/G	downstream gene variant	—
rs957135838	11:65,302,741	A/G	—	uncertain significance
rs1207232282	11:65,302,767	C/T	—	uncertain significance
rs375023975	11:65,302,784	T/C	—	likely benign
rs538642382	11:65,302,813	C/T	—	uncertain significance
rs781625659	11:65,302,853	C/T	—	uncertain significance
rs201581270	11:65,302,854	G/T	—	pathogenic
rs183121933	11:65,303,417	A/C	—	likely benign
rs76955800	11:65,303,420	G/A	—	benign
rs1554969894	11:65,303,449	C/T	—	likely pathogenic
rs1482974379	11:65,303,465	T/G	—	likely benign
rs1554969925	11:65,303,470	A/G	—	pathogenic
rs55977709	11:65,303,473	C/T	—	uncertain significance
rs2496018635	11:65,303,538	A/C	—	uncertain significance
rs374754187	11:65,303,544	T/C	—	uncertain significance
rs372352176	11:65,303,581	C/T	—	uncertain significance
rs1855636876	11:65,303,723	C/T	—	likely benign
rs748978822	11:65,303,745	C/T	—	uncertain significance
rs553035759	11:65,303,746	G/A	—	likely benign
rs772320310	11:65,303,777	G/A	—	likely benign
rs761069441	11:65,303,786	G/A	—	likely benign

Showing 100 of 141 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.