Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.P1131R
Back to variants list

INSR

NM_000208.4:p.P1131R

Associated Papers

Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.

Wang K et al.

World Journal of Diabetes, 2026

Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report.

Yan S et al.

Frontiers in Pediatrics, 2025

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."