Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP53

Variant:p.Q162_C163Splc

Back to variants list

USP53

NM_001371395.1:p.Q162_C163Splc

hg38:chr4:119256360 G>T

Associated Papers

A novel mechanism involving USP53-regulated BSEP trafficking underlies low-GGT intrahepatic cholestasis.

Ding J et al.

Hepatology (baltimore, Md.), 2025

40828662 (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."