ERGIC2

ERGIC and golgi 2

Summary

ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]

Known Variants24 total

rsidPosition (GRCh37)AllelesClassClinVar
rs118330967012:29,494,099T/C—uncertain significance
rs37553431012:29,494,671T/C—uncertain significance
rs36845419012:29,494,678G/A—uncertain significance
rs249837286412:29,496,073C/T—uncertain significance
rs37226694012:29,496,103T/C—uncertain significance
rs142214747112:29,496,193G/T—uncertain significance
rs1084339012:29,496,991C/Tdownstream gene variant—
rs75346114712:29,498,387C/T—likely benign
rs74785492212:29,498,417T/C—uncertain significance
rs249838346512:29,502,024T/C—uncertain significance
rs249838355412:29,502,068T/G—uncertain significance
rs1008295612:29,504,556A/Gintron variant—
rs75587089312:29,509,403C/T—uncertain significance
rs103560612:29,509,450C/Tintron variant—
rs37185021112:29,510,577G/A—uncertain significance
rs20003711612:29,510,578T/C—likely benign
rs76086011412:29,519,821C/G—uncertain significance
rs144347763212:29,519,880T/A—uncertain significance
rs1012878112:29,520,706T/Cintron variant—
rs37183730312:29,521,198T/C—uncertain significance
rs36772408512:29,523,048T/C—uncertain significance
rs56389654112:29,523,117T/C—uncertain significance
rs115624212:29,523,957T/Cintron variant—
rs965180212:29,525,436T/Gintron variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.