Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.D80V
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HNF1A

NM_000545.8:p.D80V

Associated Papers

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_4.

Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress.

Chen Y et al.

International Journal of Molecular Sciences, 2022

Defective functions of HNF1A variants on BCL2L1 transactivation and beta-cell growth.

Sujjitjoon J et al.

Biochemical and Biophysical Research Communications, 2020

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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."