PCNX1

pecanex 1

Summary

This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]

Known Variants45 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs771612445	14:71,374,579	G/C	—	uncertain significance
rs371986953	14:71,374,618	C/T	—	likely benign
rs2810117	14:71,391,025	T/C	intron variant	—
rs2810114	14:71,395,604	C/A	intron variant	—
rs1165660966	14:71,413,707	G/A	—	uncertain significance
rs145807664	14:71,413,711	A/C	—	benign
rs138566336	14:71,413,782	C/G	—	likely benign
rs12589706	14:71,426,929	C/T	intron variant	—
rs530753281	14:71,433,445	A/T	—	—
rs147408993	14:71,443,705	C/T	—	likely benign
rs2058709705	14:71,443,748	T/C	—	likely benign
rs148727616	14:71,443,815	C/G	—	uncertain significance
rs35702999	14:71,443,816	T/G	—	benign
rs374671240	14:71,443,977	G/A	—	uncertain significance
rs59575910	14:71,444,401	T/C	—	benign
rs139776513	14:71,444,427	C/T	—	likely benign
rs144799758	14:71,444,466	C/G	—	benign
rs371433454	14:71,444,793	A/G	—	uncertain significance
rs139456304	14:71,444,837	A/C	—	uncertain significance
rs8019019	14:71,445,070	G/A	—	benign
rs376529028	14:71,445,071	C/T	—	uncertain significance
rs2548860735	14:71,445,233	G/C	—	uncertain significance
rs28742977	14:71,445,256	A/G	—	benign
rs34655198	14:71,455,317	G/A	—	likely benign
rs140192722	14:71,455,394	T/C	—	benign
rs1257025873	14:71,455,409	C/T	—	uncertain significance
rs67981189	14:71,472,226	A/T	—	—
rs781674781	14:71,476,368	C/G	—	uncertain significance
rs193920949	14:71,485,778	G/T	—	uncertain significance
rs201464749	14:71,500,161	C/G	—	uncertain significance
rs117405927	14:71,502,824	G/T	—	uncertain significance
rs2060525536	14:71,502,851	A/G	—	uncertain significance
rs11848070	14:71,507,601	G/T	—	—
rs1336877502	14:71,511,881	T/C	—	uncertain significance
rs202214990	14:71,511,884	G/T	—	uncertain significance
rs78161372	14:71,514,668	G/C	—	benign
rs117022991	14:71,517,348	G/C	—	benign
rs142889275	14:71,517,391	T/G	—	uncertain significance
rs10135836	14:71,518,596	A/C	—	benign
rs765028022	14:71,542,932	G/A	—	likely benign
rs376782250	14:71,543,000	A/G	—	uncertain significance
rs765721249	14:71,556,002	G/A	—	uncertain significance
rs765866576	14:71,568,869	G/C	—	uncertain significance
rs113361961	14:71,570,366	C/T	—	likely benign
rs77570971	14:71,575,729	A/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.