Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC1

Variant:p.V175_K176Splc

Back to variants list

ERCC1

NM_001983.4:p.V175_K176Splc

hg38:chr19:45419096 A>G

Associated Papers

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.

White SM et al.

European Journal of Human Genetics : Ejhg, 2025

40684071 (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."