PANX1

pannexin 1

Summary

The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]

Known Variants62 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4293090	11:93,861,797	A/G	—	benign
rs4753126	11:93,862,020	C/T	—	benign
rs77517764	11:93,862,458	C/G	—	benign
rs1138800	11:93,862,493	A/C	—	benign
rs770987950	11:93,862,500	A/G	—	uncertain significance
rs1358358916	11:93,862,527	C/G	—	uncertain significance
rs767011036	11:93,862,546	C/G	—	uncertain significance
rs143890339	11:93,862,559	G/T	—	benign
rs745843325	11:93,862,577	T/C	—	likely benign
rs56175344	11:93,864,393	C/G	regulatory region variant	—
rs78603597	11:93,868,824	T/C	regulatory region variant	—
rs7117339	11:93,870,338	C/T	intron variant	—
rs2496343803	11:93,886,665	A/G	—	uncertain significance
rs369757341	11:93,886,666	T/C	—	uncertain significance
rs1473435201	11:93,886,736	T/C	—	likely benign
rs150832252	11:93,886,737	G/T	—	uncertain significance
rs564530224	11:93,886,775	C/A	—	uncertain significance
rs7928030	11:93,886,838	G/C	—	benign
rs12796568	11:93,910,080	C/T	intron variant	—
rs763015243	11:93,911,587	T/C	—	uncertain significance
rs751430673	11:93,911,595	C/T	—	uncertain significance
rs200209193	11:93,911,596	G/A	—	uncertain significance
rs201108551	11:93,911,601	G/A	—	likely benign
rs572944224	11:93,911,668	G/A	—	uncertain significance
rs149967628	11:93,911,678	G/C	—	conflicting classifications of pathogenicity
rs145987256	11:93,911,685	A/G	—	uncertain significance
rs371181159	11:93,911,692	C/T	—	likely benign
rs1310511658	11:93,911,732	A/G	—	likely benign
rs768772897	11:93,911,749	T/C	—	uncertain significance
rs2282655	11:93,911,856	C/T	—	benign
rs11600490	11:93,912,620	C/T	—	benign
rs11822813	11:93,912,638	G/A	—	benign
rs762558444	11:93,912,805	A/G	—	uncertain significance
rs143240087	11:93,912,872	G/A	—	uncertain significance
rs1565387114	11:93,912,874	C/A	—	uncertain significance
rs142497626	11:93,912,949	G/A	—	uncertain significance
rs1379610489	11:93,912,971	C/T	—	uncertain significance
rs74832612	11:93,912,987	C/T	—	likely benign
rs1947282314	11:93,912,988	G/A	—	uncertain significance
rs12793348	11:93,913,036	A/G	—	benign
rs780051930	11:93,913,069	G/T	—	uncertain significance
rs372103195	11:93,913,090	G/A	—	likely benign
rs375539925	11:93,913,104	G/A	—	likely benign
rs767770975	11:93,913,133	A/C	—	uncertain significance
rs201625424	11:93,913,184	A/G	—	uncertain significance
rs557928663	11:93,913,229	A/G	—	uncertain significance
rs1591529130	11:93,913,258	A/G	—	pathogenic
rs1212949833	11:93,913,262	G/C	—	pathogenic
rs180948414	11:93,913,305	C/T	—	likely benign
rs773590108	11:93,913,306	G/A	—	uncertain significance
rs148324299	11:93,913,355	T/C	—	conflicting classifications of pathogenicity
rs1390177074	11:93,913,378	G/A	—	uncertain significance
rs74549886	11:93,913,392	G/T	—	benign
rs1591529258	11:93,913,396	C/T	—	pathogenic
rs115773754	11:93,913,409	C/T	—	benign
rs12281509	11:93,913,432	T/G	—	likely benign
rs3020015	11:93,913,458	T/C	—	benign
rs117613677	11:93,913,492	C/T	—	benign
rs12798981	11:93,913,691	C/T	—	benign
rs12804697	11:93,913,692	T/C	—	benign
rs368311655	11:93,914,007	G/A	—	uncertain significance
rs12800562	11:93,914,129	A/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.