IFNAR2

interferon alpha and beta receptor subunit 2

Summary

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family. Mutations in this gene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]

Known Variants243 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17860115	21:34,602,305	C/G	—	—
rs3153	21:34,609,505	G/A	—	association
rs9636867	21:34,609,944	A/G	intron variant	—
rs150568093	21:34,610,659	C/T	regulatory region variant	—
rs545411453	21:34,612,133	G/T	—	—
rs762005656	21:34,614,241	A/G	—	uncertain significance
rs2229207	21:34,614,250	T/C	missense variant	risk factor
rs750264158	21:34,614,254	C/G	—	uncertain significance
rs1051393	21:34,614,255	T/A	—	uncertain significance
rs2516693891	21:34,614,260	A/T	—	uncertain significance
rs780623117	21:34,614,263	A/T	—	likely benign
rs1243904936	21:34,614,266	T/G	—	likely benign
rs755873190	21:34,614,271	T/G	—	uncertain significance
rs1476050885	21:34,614,280	T/C	—	uncertain significance
rs1469577615	21:34,614,292	G/C	—	likely benign
rs1986972478	21:34,614,293	C/T	—	likely benign
rs1444716777	21:34,614,299	A/G	—	likely benign
rs2516694112	21:34,614,300	T/C	—	likely benign
rs1380161893	21:34,614,301	C/T	—	likely benign
rs62226154	21:34,614,901	G/T	upstream gene variant	—
rs13050728	21:34,615,210	T/C	upstream gene variant	—
rs759720044	21:34,615,962	G/A	—	likely benign
rs781731891	21:34,615,981	A/G	—	uncertain significance
rs143742626	21:34,615,987	G/T	—	uncertain significance
rs769867496	21:34,615,988	C/T	—	likely benign
rs200546356	21:34,615,991	C/T	—	likely benign
rs561488102	21:34,615,992	G/A	—	uncertain significance
rs1200769826	21:34,616,009	T/C	—	likely benign
rs765337440	21:34,616,012	T/G	—	uncertain significance
rs767168940	21:34,616,014	C/G	—	uncertain significance
rs775529446	21:34,616,015	G/A	—	likely benign
rs1987175968	21:34,616,038	C/T	—	likely benign
rs2834158	21:34,617,213	T/A	—	uncertain significance
rs760755014	21:34,617,236	C/T	—	likely benign
rs1165426908	21:34,617,238	T/C	—	likely benign
rs1298572018	21:34,617,245	C/A	—	likely benign
rs764608665	21:34,617,260	C/T	—	likely benign
rs201003373	21:34,617,267	G/C	—	uncertain significance
rs1164631131	21:34,617,275	C/A	—	pathogenic
rs149204840	21:34,617,280	T/C	—	uncertain significance
rs754395606	21:34,617,285	A/T	—	uncertain significance
rs2516705053	21:34,617,286	T/C	—	uncertain significance
rs1601799494	21:34,617,290	A/G	—	likely benign
rs778657924	21:34,617,294	C/T	—	pathogenic
rs533026439	21:34,617,304	G/A	—	uncertain significance
rs1987287426	21:34,617,315	T/C	—	conflicting classifications of pathogenicity
rs36088527	21:34,617,324	T/C	—	likely benign
rs768519080	21:34,617,333	C/T	—	uncertain significance
rs1987290876	21:34,617,341	T/A	—	likely benign
rs769356115	21:34,617,352	A/C	—	uncertain significance
rs772583115	21:34,617,355	A/G	—	uncertain significance
rs138445544	21:34,617,357	A/G	—	uncertain significance
rs372212285	21:34,617,358	C/T	—	uncertain significance
rs753111606	21:34,617,365	G/A	—	likely benign
rs142850110	21:34,617,375	A/G	—	uncertain significance
rs2123478681	21:34,617,381	T/C	—	likely pathogenic
rs758221505	21:34,617,384	G/A	—	uncertain significance
rs750467373	21:34,617,399	T/G	—	likely benign
rs367660460	21:34,619,005	A/G	—	likely benign
rs780213412	21:34,619,029	A/T	—	likely benign
rs1415566196	21:34,619,064	C/T	—	uncertain significance
rs1202241897	21:34,619,069	A/G	—	uncertain significance
rs1327351250	21:34,619,110	C/G	—	uncertain significance
rs770432974	21:34,619,111	G/A	—	uncertain significance
rs775739391	21:34,619,112	—	—	pathogenic
rs1453084175	21:34,619,113	G/C	—	uncertain significance
rs773793948	21:34,619,118	A/T	—	uncertain significance
rs140084698	21:34,619,126	G/A	—	uncertain significance
rs369715958	21:34,619,127	T/C	—	uncertain significance
rs375471432	21:34,619,134	A/G	—	likely benign
rs141399727	21:34,619,143	C/T	—	likely benign
rs150825310	21:34,619,144	G/A	—	conflicting classifications of pathogenicity
rs755290453	21:34,619,148	A/G	—	uncertain significance
rs369834795	21:34,619,155	G/A	—	likely benign
rs139177032	21:34,619,170	A/G	—	likely benign
rs1341724911	21:34,619,190	T/C	—	uncertain significance
rs1987461458	21:34,619,194	C/G	—	uncertain significance
rs745353035	21:34,619,207	C/A	—	likely benign
rs7277142	21:34,620,747	G/C	intron variant	—
rs903202071	21:34,621,013	G/A	—	likely pathogenic
rs2516717876	21:34,621,015	G/A	—	uncertain significance
rs541430161	21:34,621,021	T/C	—	likely benign
rs746695388	21:34,621,025	C/T	—	uncertain significance
rs768348126	21:34,621,026	C/T	—	uncertain significance
rs778037937	21:34,621,033	G/A	—	likely benign
rs1987628623	21:34,621,043	G/A	—	uncertain significance
rs549962048	21:34,621,056	A/G	—	uncertain significance
rs772058604	21:34,621,061	A/G	—	uncertain significance
rs775627702	21:34,621,065	A/G	—	uncertain significance
rs143867273	21:34,621,084	A/G	—	benign
rs764980427	21:34,621,117	A/C	—	uncertain significance
rs140533677	21:34,621,124	G/A	—	conflicting classifications of pathogenicity
rs144291894	21:34,621,138	G/T	—	likely benign
rs2516718753	21:34,621,144	G/A	—	likely benign
rs919494791	21:34,621,171	C/T	—	likely benign
rs2236757	21:34,624,917	A/G	—	benign
rs1390446086	21:34,624,955	T/G	—	uncertain significance
rs932761999	21:34,624,958	T/C	—	likely benign
rs575467131	21:34,624,975	C/T	—	likely benign
rs147789575	21:34,624,976	G/A	—	uncertain significance

Showing 100 of 243 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.