Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSMG2

Variant:p.E222_Y223delFs

Back to variants list

PSMG2

NM_020232.5:p.E222_Y223delFs

hg38:chr18:12724582 AGT>A

Associated Papers

Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.

de Jesus AA et al.

The Journal of Allergy and Clinical Immunology, 2019

30664889 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."