Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q495*
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HNF1A

NM_000545.8:p.Q495*

Associated Papers

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM2_ESM.xlsx › cosmic_mut_bc_mut_gatk_hc_dbsnp

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

Li LM et al.

Frontiers in Endocrinology, 2022

Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.

Billings LK et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

28453780 (PubMed )
Supplement: jc.2016-3429.st1.xlsx › Online_Supplemental_Table_2

Maturity-onset diabetes of the young and hepatic adenomatosis - characterisation of a new mutation.

Iwen KA et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2013

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.

Awa WL et al.

European Journal of Endocrinology, 2011

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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."