KIRREL3

kirre like nephrin family adhesion molecule 3

Summary

The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Known Variants127 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs752806	11:126,293,239	A/G	—	—
rs3212318	11:126,294,464	G/A	—	benign
rs368469108	11:126,294,510	G/A	—	likely benign
rs370722955	11:126,294,532	C/T	—	likely benign
rs1024122650	11:126,294,583	G/A	—	likely benign
rs573865126	11:126,294,610	G/A	—	likely benign
rs119462980	11:126,294,621	C/T	missense variant	uncertain significance
rs374832017	11:126,294,638	G/A	—	uncertain significance
rs34844660	11:126,294,661	G/A	—	benign
rs35006764	11:126,294,694	A/C	—	benign
rs181539065	11:126,294,700	G/A	—	likely benign
rs373999671	11:126,294,738	C/T	—	uncertain significance
rs776552881	11:126,294,739	G/A	—	likely benign
rs369807345	11:126,294,752	C/T	—	uncertain significance
rs1057519593	11:126,294,793	C/T	missense variant	pathogenic
rs948052	11:126,294,817	G/A	—	benign
rs200640353	11:126,294,821	G/A	—	uncertain significance
rs1591511147	11:126,294,825	G/C	—	uncertain significance
rs773312950	11:126,294,827	C/T	—	association
rs375855596	11:126,294,829	C/T	—	likely benign
rs767929793	11:126,294,835	G/A	—	likely benign
rs2539845094	11:126,294,845	C/T	—	uncertain significance
rs1954881235	11:126,294,860	G/A	—	uncertain significance
rs769834000	11:126,294,873	G/A	—	uncertain significance
rs749574610	11:126,294,886	G/A	—	likely benign
rs759990243	11:126,294,895	G/A	—	likely benign
rs577250083	11:126,294,901	G/A	—	likely benign
rs1347833569	11:126,295,627	C/T	—	uncertain significance
rs4935969	11:126,296,589	C/T	intron variant	—
rs35458154	11:126,296,825	G/A	intron variant	—
rs74464311	11:126,299,089	G/A	—	benign
rs773813451	11:126,299,094	A/G	—	benign
rs1447216237	11:126,299,112	G/A	—	uncertain significance
rs780337340	11:126,299,138	A/G	—	uncertain significance
rs1955044562	11:126,299,168	A/G	—	uncertain significance
rs2134149133	11:126,301,221	C/A	—	uncertain significance
rs1555100391	11:126,301,295	C/G	—	uncertain significance
rs1226077050	11:126,301,309	C/T	—	uncertain significance
rs779381579	11:126,301,341	C/T	—	uncertain significance
rs377692464	11:126,301,426	G/A	—	likely benign
rs370486618	11:126,305,159	G/A	—	likely benign
rs1030171026	11:126,305,186	T/A	—	uncertain significance
rs587780377	11:126,306,721	G/A	—	likely benign
rs766988987	11:126,306,726	A/G	—	uncertain significance
rs186782738	11:126,306,758	C/G	—	likely benign
rs530293609	11:126,306,774	G/C	—	uncertain significance
rs547178906	11:126,306,785	G/A	—	likely benign
rs191792529	11:126,306,788	C/T	—	benign
rs550464999	11:126,306,793	C/T	—	uncertain significance
rs367818668	11:126,306,794	G/A	—	likely benign
rs373003704	11:126,306,851	C/T	—	likely benign
rs377164637	11:126,306,852	G/A	—	uncertain significance
rs138978113	11:126,306,863	C/T	—	conflicting classifications of pathogenicity
rs377743404	11:126,306,872	C/T	—	benign
rs768194191	11:126,306,883	C/T	—	uncertain significance
rs587780376	11:126,306,910	C/G	—	uncertain significance
rs34434834	11:126,307,796	G/C	—	—
rs2539891654	11:126,310,400	C/A	—	uncertain significance
rs367859450	11:126,310,404	G/C	—	likely benign
rs778306287	11:126,310,408	G/A	—	uncertain significance
rs756771713	11:126,310,417	G/C	—	uncertain significance
rs1565456303	11:126,314,888	G/A	—	not provided
rs764518355	11:126,314,897	C/G	—	uncertain significance
rs1955736095	11:126,314,909	C/T	—	uncertain significance
rs1242650611	11:126,314,931	G/A	—	uncertain significance
rs201882059	11:126,314,949	C/T	—	likely benign
rs373178047	11:126,314,950	G/A	—	likely benign
rs562824080	11:126,314,960	C/T	—	likely benign
rs760921025	11:126,314,970	T/C	—	uncertain significance
rs6590207	11:126,316,025	A/G	intron variant	—
rs749562068	11:126,316,673	A/C	—	uncertain significance
rs370728972	11:126,316,681	G/A	—	likely benign
rs760302120	11:126,316,711	G/A	—	likely benign
rs2134196562	11:126,316,740	C/T	—	likely benign
rs201119633	11:126,316,743	C/T	—	uncertain significance
rs1165505714	11:126,316,764	T/C	—	uncertain significance
rs114378922	11:126,316,772	C/T	missense variant	uncertain significance
rs1431156299	11:126,316,773	G/A	—	uncertain significance
rs79582494	11:126,316,785	C/T	—	benign
rs1064795581	11:126,318,903	C/T	—	pathogenic
rs769678906	11:126,318,946	C/T	—	uncertain significance
rs369993672	11:126,318,947	G/A	—	likely benign
rs2539919317	11:126,318,960	C/A	—	likely pathogenic
rs201725914	11:126,318,993	A/G	—	likely benign
rs1244879056	11:126,319,016	A/G	—	likely benign
rs200243864	11:126,319,031	G/T	—	likely benign
rs111850489	11:126,325,022	A/G	—	benign
rs374510650	11:126,326,296	C/A	—	uncertain significance
rs375296637	11:126,326,336	G/A	—	likely benign
rs199541555	11:126,333,052	G/A	—	uncertain significance
rs1473256132	11:126,333,125	C/T	—	uncertain significance
rs200789628	11:126,333,139	C/T	—	uncertain significance
rs1057524001	11:126,333,172	T/C	—	uncertain significance
rs370309110	11:126,333,181	G/A	—	uncertain significance
rs1591598734	11:126,343,215	T/C	—	uncertain significance
rs111418068	11:126,343,227	C/T	—	benign
rs373478176	11:126,343,365	C/T	—	likely benign
rs12790482	11:126,348,614	G/T	—	—
rs12800064	11:126,353,561	C/T	intron variant	—
rs745324200	11:126,372,660	G/A	—	—

Showing 100 of 127 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.