LEPR

leptin receptor

Summary

The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]

Known Variants344 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1327118	1:65,885,569	G/A	—	—
rs1646225829	1:65,886,334	C/T	—	uncertain significance
rs368145929	1:65,886,358	C/A	—	uncertain significance
rs372078226	1:65,886,359	C/T	—	uncertain significance
rs3790435	1:65,886,398	T/C	—	benign
rs189950527	1:65,886,400	C/T	—	uncertain significance
rs12145690	1:65,887,013	A/C	regulatory region variant	—
rs150026062	1:65,891,031	T/G	—	uncertain significance
rs9436298	1:65,891,183	T/A	—	benign
rs182836497	1:65,891,661	C/T	regulatory region variant	—
rs3790433	1:65,894,342	C/A	—	—
rs9436303	1:65,896,674	A/G	intron variant	—
rs1045895	1:65,897,981	G/A	intron variant	—
rs75276031	1:65,899,344	C/T	intron variant	—
rs11804091	1:65,903,879	A/G	downstream gene variant	—
rs17412175	1:65,904,886	T/G	—	—
rs10889551	1:65,906,137	A/G	regulatory region variant	—
rs10889553	1:65,906,265	G/A	regulatory region variant	—
rs9436746	1:65,908,473	A/C	intron variant	—
rs9436748	1:65,911,672	G/A	—	—
rs146441529	1:65,916,114	A/C	—	—
rs12410063	1:65,921,318	C/G	—	—
rs6588147	1:65,935,494	G/A	regulatory region variant	—
rs72681334	1:65,938,854	C/T	intron variant	—
rs61779814	1:65,939,443	C/G	intron variant	—
rs12037879	1:65,942,707	G/A	intron variant	—
rs6698653	1:65,944,850	T/C	intron variant	—
rs7554485	1:65,945,906	T/C	regulatory region variant	—
rs2025804	1:65,946,121	G/A	intron variant	—
rs7523344	1:65,947,044	A/C	regulatory region variant	—
rs12402567	1:65,948,940	C/A	upstream gene variant	—
rs2025805	1:65,949,878	G/A	upstream gene variant	—
rs12408851	1:65,958,006	G/C	—	—
rs142297813	1:65,962,076	C/A	downstream gene variant	—
rs10157275	1:65,966,503	C/T	intron variant	—
rs72921490	1:65,967,108	A/T	intron variant	—
rs2104564	1:65,969,430	C/T	regulatory region variant	—
rs2767485	1:65,978,917	T/C	regulatory region variant	—
rs11208659	1:65,979,280	T/A	—	—
rs1627238	1:65,986,079	G/T	—	—
rs11208662	1:65,987,164	G/T	—	—
rs1171276	1:65,987,449	A/G	intron variant	—
rs1171277	1:65,987,676	G/A	intron variant	—
rs1571151	1:65,988,706	A/G	intron variant	—
rs191246201	1:65,992,397	G/A	intron variant	—
rs1751492	1:65,992,625	C/T	regulatory region variant	—
rs374372356	1:66,013,511	C/G	—	—
rs9728077	1:66,013,848	C/A	intron variant	—
rs1782759	1:66,017,686	C/T	intron variant	—
rs2767482	1:66,018,227	T/C	intron variant	—
rs1751486	1:66,020,840	A/G	regulatory region variant	—
rs6673324	1:66,031,063	G/A	intron variant	benign
rs116571599	1:66,031,214	A/T	—	conflicting classifications of pathogenicity
rs147768538	1:66,031,284	T/C	—	conflicting classifications of pathogenicity
rs10157915	1:66,031,528	T/A	—	benign
rs3790431	1:66,036,028	A/G	—	benign
rs778003419	1:66,036,191	T/C	—	uncertain significance
rs2526435092	1:66,036,196	A/G	—	likely benign
rs369475236	1:66,036,197	A/G	—	uncertain significance
rs945135468	1:66,036,208	G/A	stop gained	pathogenic
rs1241672391	1:66,036,243	C/G	—	uncertain significance
rs2100804678	1:66,036,280	G/C	—	uncertain significance
rs376850470	1:66,036,295	G/A	—	likely benign
rs997252375	1:66,036,312	C/A	—	uncertain significance
rs891183270	1:66,036,375	T/C	—	uncertain significance
rs548848340	1:66,036,411	G/A	—	conflicting classifications of pathogenicity
rs1297438423	1:66,036,414	C/G	—	uncertain significance
rs2526437237	1:66,036,424	A/C	—	likely benign
rs767640426	1:66,036,432	T/C	—	likely benign
rs1137100	1:66,036,441	A/G	missense variant	benign
rs2526437469	1:66,036,455	A/G	—	uncertain significance
rs773805917	1:66,036,460	A/G	—	uncertain significance
rs758311989	1:66,036,461	A/C	—	uncertain significance
rs1557669567	1:66,036,469	A/G	—	likely benign
rs2526437622	1:66,036,471	T/A	—	uncertain significance
rs2526437831	1:66,036,495	A/G	—	likely benign
rs2186248	1:66,036,501	G/T	—	benign
rs35971550	1:66,036,614	G/C	—	likely benign
rs13306519	1:66,037,929	C/G	downstream gene variant	likely benign
rs70940803	1:66,037,984	T/G	—	benign
rs571846073	1:66,037,992	T/G	—	likely benign
rs1253993053	1:66,038,000	T/A	—	conflicting classifications of pathogenicity
rs779920908	1:66,038,001	A/C	—	likely benign
rs35573508	1:66,038,009	A/G	—	conflicting classifications of pathogenicity
rs760870026	1:66,038,029	T/A	—	uncertain significance
rs759764704	1:66,038,059	A/G	—	uncertain significance
rs147667928	1:66,038,068	G/T	—	uncertain significance
rs2526457529	1:66,038,095	A/G	—	uncertain significance
rs1557670950	1:66,038,102	A/C	—	pathogenic
rs748903074	1:66,038,107	T/G	—	uncertain significance
rs12033452	1:66,038,435	C/A	—	benign
rs116349491	1:66,038,456	A/T	—	likely benign
rs10493380	1:66,046,117	A/C	upstream gene variant	—
rs10789186	1:66,050,477	G/C	—	—
rs7535099	1:66,050,997	A/G	intron variant	—
rs1032755909	1:66,055,413	T/G	—	uncertain significance
rs190058080	1:66,058,349	G/A	—	likely benign
rs748461173	1:66,058,364	T/C	—	likely benign
rs758719182	1:66,058,376	A/G	—	uncertain significance
rs151190195	1:66,058,381	G/A	—	conflicting classifications of pathogenicity

Showing 100 of 344 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.