TRAPPC2L

trafficking protein particle complex subunit 2L

Summary

This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Known Variants36 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs751046231	16:88,923,563	C/G	—	conflicting classifications of pathogenicity
rs1967978300	16:88,923,575	C/T	—	uncertain significance
rs764970261	16:88,923,587	A/G	—	uncertain significance
rs775304599	16:88,923,588	G/C	—	uncertain significance
rs756746301	16:88,923,591	G/A	—	uncertain significance
rs766956834	16:88,923,593	T/G	—	likely pathogenic
rs2543665538	16:88,923,596	G/A	—	uncertain significance
rs894376468	16:88,925,021	T/C	—	likely benign
rs2543678251	16:88,925,078	C/G	—	uncertain significance
rs766510287	16:88,925,102	G/T	—	pathogenic
rs138888513	16:88,925,104	C/T	—	likely benign
rs114835271	16:88,925,112	A/G	—	likely benign
rs2543679001	16:88,925,157	A/T	—	likely pathogenic
rs3784874	16:88,925,960	G/A	—	benign
rs3784873	16:88,925,989	A/G	—	benign
rs747479332	16:88,925,993	C/T	—	likely benign
rs3826063	16:88,926,026	C/T	—	benign
rs142196121	16:88,926,079	A/G	—	uncertain significance
rs77686150	16:88,926,080	C/T	—	likely benign
rs139655373	16:88,926,081	G/A	—	benign
rs2543685568	16:88,926,084	A/G	—	uncertain significance
rs71395334	16:88,926,089	T/C	—	benign
rs372550571	16:88,926,091	C/G	—	uncertain significance
rs1251117772	16:88,926,337	A/G	—	uncertain significance
rs116785233	16:88,926,339	G/A	—	uncertain significance
rs1392968102	16:88,926,356	A/G	—	uncertain significance
rs371486163	16:88,926,367	C/T	—	uncertain significance
rs191651625	16:88,926,876	T/A	upstream gene variant	—
rs2543694245	16:88,927,302	G/A	—	uncertain significance
rs112109570	16:88,927,306	C/T	—	likely benign
rs111674366	16:88,927,312	C/T	—	benign
rs764311834	16:88,927,323	G/C	—	uncertain significance
rs777494463	16:88,927,324	C/T	—	uncertain significance
rs114807450	16:88,927,329	G/A	—	uncertain significance
rs751378917	16:88,927,359	G/C	—	uncertain significance
rs1467887329	16:88,927,368	G/A	—	likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.