PAX8

paired box 8

Summary

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

Known Variants205 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886054780	2:113,973,583	T/C	—	uncertain significance
rs886054781	2:113,973,593	G/A	—	uncertain significance
rs2019137	2:113,973,632	G/A	—	benign
rs551249311	2:113,973,635	G/A	—	uncertain significance
rs886054782	2:113,973,701	G/A	—	uncertain significance
rs150097052	2:113,973,742	G/A	—	uncertain significance
rs886054783	2:113,973,784	T/C	—	uncertain significance
rs138391311	2:113,973,790	C/T	—	uncertain significance
rs886054784	2:113,973,798	C/T	—	uncertain significance
rs1077855	2:113,973,801	T/C	—	benign
rs189067014	2:113,973,834	C/T	—	conflicting classifications of pathogenicity
rs888850438	2:113,973,879	G/A	—	uncertain significance
rs148816725	2:113,973,917	C/T	—	uncertain significance
rs886054785	2:113,973,918	G/A	—	uncertain significance
rs895412	2:113,973,964	T/C	—	benign
rs143820836	2:113,974,066	C/G	—	uncertain significance
rs531249238	2:113,974,077	G/A	—	uncertain significance
rs886054786	2:113,974,133	A/G	—	uncertain significance
rs932801565	2:113,974,168	G/A	—	uncertain significance
rs874898	2:113,974,196	G/C	—	benign
rs138533336	2:113,974,303	G/C	—	uncertain significance
rs144041400	2:113,974,345	C/T	—	uncertain significance
rs773369036	2:113,974,620	C/T	—	uncertain significance
rs532372672	2:113,974,653	C/T	—	uncertain significance
rs886054787	2:113,974,717	T/C	—	uncertain significance
rs937780091	2:113,974,924	C/G	—	uncertain significance
rs147293224	2:113,975,044	C/T	—	uncertain significance
rs1689067483	2:113,975,050	G/C	—	uncertain significance
rs1478	2:113,975,066	G/T	—	benign
rs527418580	2:113,975,081	C/T	—	uncertain significance
rs1479	2:113,975,104	T/G	—	benign
rs1049137	2:113,975,110	A/G	—	benign
rs886054788	2:113,975,172	G/C	—	uncertain significance
rs745424024	2:113,975,213	G/A	—	uncertain significance
rs536050658	2:113,975,265	C/T	—	uncertain significance
rs183711194	2:113,975,266	G/A	—	uncertain significance
rs886054789	2:113,975,321	C/T	—	uncertain significance
rs1689075892	2:113,975,344	G/A	—	uncertain significance
rs886054790	2:113,975,346	G/A	—	uncertain significance
rs768371093	2:113,975,402	G/A	—	uncertain significance
rs141475261	2:113,975,407	C/T	—	uncertain significance
rs1259968544	2:113,975,413	G/A	—	uncertain significance
rs868036257	2:113,975,446	A/G	—	uncertain significance
rs111411733	2:113,975,483	A/T	—	likely benign
rs773276491	2:113,975,498	C/T	—	uncertain significance
rs1024776806	2:113,975,583	C/T	—	uncertain significance
rs573072931	2:113,975,609	G/A	—	uncertain significance
rs149552415	2:113,975,638	G/A	—	uncertain significance
rs774457240	2:113,975,687	G/A	—	uncertain significance
rs538590834	2:113,975,738	G/A	—	uncertain significance
rs886054791	2:113,975,742	C/G	—	uncertain significance
rs182231841	2:113,975,767	C/T	—	uncertain significance
rs144113497	2:113,975,820	T/C	—	uncertain significance
rs575199444	2:113,975,906	G/T	—	uncertain significance
rs78802229	2:113,975,923	T/C	—	likely benign
rs368201100	2:113,976,146	T/C	—	likely benign
rs575054787	2:113,976,153	G/A	—	uncertain significance
rs1305878191	2:113,976,183	G/A	—	uncertain significance
rs893315047	2:113,976,196	T/C	—	uncertain significance
rs2289897	2:113,977,454	A/G	—	benign
rs368814338	2:113,977,670	C/T	—	uncertain significance
rs199844947	2:113,977,678	T/C	—	uncertain significance
rs200817352	2:113,977,703	G/A	—	likely benign
rs190681011	2:113,977,718	G/C	—	conflicting classifications of pathogenicity
rs369313070	2:113,977,719	G/C	—	uncertain significance
rs766948534	2:113,977,765	G/A	—	likely benign
rs4849175	2:113,977,862	T/G	—	benign
rs76678068	2:113,977,882	C/T	—	benign
rs4849176	2:113,977,936	C/T	—	benign
rs77143791	2:113,978,183	A/G	intron variant	—
rs7578633	2:113,978,650	C/T	intron variant	—
rs11123170	2:113,978,940	C/G	intron variant	—
rs6707386	2:113,981,022	G/A	intron variant	—
rs12619508	2:113,982,040	C/A	intron variant	—
rs4849177	2:113,982,584	T/A	—	—
rs2241975	2:113,984,503	T/C	—	benign
rs67776659	2:113,984,594	T/C	—	benign
rs149585280	2:113,984,717	C/T	—	conflicting classifications of pathogenicity
rs2466832910	2:113,984,732	C/T	—	uncertain significance
rs886054792	2:113,984,736	C/T	—	uncertain significance
rs199820445	2:113,984,771	C/T	—	conflicting classifications of pathogenicity
rs145036350	2:113,984,778	G/A	—	benign
rs987647241	2:113,984,782	G/A	—	likely benign
rs189229644	2:113,984,805	G/A	—	conflicting classifications of pathogenicity
rs1262798217	2:113,984,811	C/T	—	likely benign
rs377351599	2:113,984,812	G/A	—	conflicting classifications of pathogenicity
rs748307374	2:113,984,823	C/T	—	uncertain significance
rs370348569	2:113,984,830	C/T	—	likely benign
rs4849179	2:113,985,170	T/C	—	benign
rs4849180	2:113,985,186	C/G	—	benign
rs10175462	2:113,988,492	G/A	upstream gene variant	—
rs778012744	2:113,992,966	C/T	—	likely benign
rs111481416	2:113,992,967	G/A	—	conflicting classifications of pathogenicity
rs776082182	2:113,992,998	G/C	—	uncertain significance
rs530511212	2:113,993,008	G/T	—	likely benign
rs1278780718	2:113,993,013	C/G	—	uncertain significance
rs368377605	2:113,993,018	T/C	—	uncertain significance
rs374652916	2:113,993,030	T/C	—	conflicting classifications of pathogenicity
rs1553412951	2:113,993,047	G/A	—	likely benign
rs199939219	2:113,993,049	A/C	—	conflicting classifications of pathogenicity

Showing 100 of 205 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.