Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.E235Q
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HNF1A

NM_000545.8:p.E235Q

Associated Papers

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

41327099 (PubMed )
Supplement: 12885_2025_15360_MOESM5_ESM.xlsx › Sheet1

HNF1A:From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Li LM et al.

Frontiers in Endocrinology, 2022

Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.

Skoczek D et al.

International Journal of Molecular Sciences, 2021

34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1

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

Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.

Balamurugan K et al.

Clinical Genetics, 2016

Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young.

Radha V et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."