Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.R131P
Back to variants list

HNF1A

NM_000545.8:p.R131P

Associated Papers

A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.

Çubuk H et al.

The Protein Journal, 2021

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.

Malikova J et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.

Stanik J et al.

Diabetologia, 2014

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."