Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.S487N
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HNF1A

NM_000545.8:p.S487N

Associated Papers

Missense and Intronic Variants in HNF1A Affect Prostate Cancer Aggressiveness in Patients with Biochemical Recurrence.

Tung MC et al.

International Journal of Medical Sciences, 2026

Genetic variants linked to type 2 diabetes in CDKN1B and TCF7L2 influence survival outcomes in metastatic colorectal cancer.

Ruggiero R et al.

International Journal of Cancer, 2025

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.

Yarali O et al.

Molecular Syndromology, 2025

High Prevalence and Common Forms of Maturity-onset Diabetes of the Young in Greenland.

Thuesen ACB et al.

Canadian Journal of Diabetes, 2025

Low C-Reactive Protein Alleles in Hepatocyte Nuclear Factor 1A Are Associated With an Increased Risk of Cardiovascular Disease.

Yang C et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.

Abdelwahed M et al.

Gene, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.

Kickova T et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2024

Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

El Khoury LY et al.

Clinical Epigenetics, 2023

37120552 (PubMed )
Supplement: 13148_2023_1471_MOESM1_ESM.xlsx › S3_Mutations_by_NGS

Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Kleo K et al.

Journal of Cancer Research and Clinical Oncology, 2023

35246724 (PubMed )
Supplement: 432_2022_3944_MOESM1_ESM.xlsx › variant-list

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.

Younis H et al.

Journal of Personalized Medicine, 2022

Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.

Trhanint S et al.

International Journal of Pediatrics & Adolescent Medicine, 2022

HNF1A Mutations and Beta Cell Dysfunction in Diabetes.

Miyachi Y et al.

International Journal of Molecular Sciences, 2022

Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case-control study in the Tunisian population and a meta-analysis.

Dallali H et al.

Diabetology & Metabolic Syndrome, 2022

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

Li LM et al.

Frontiers in Endocrinology, 2022

Clinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia.

Ren XY et al.

Pharmacogenomics and Personalized Medicine, 2022

Cyclin-dependent kinase 4 upregulation mediates acquired resistance of dabrafenib plus trametinib in BRAF V600E-mutated lung cancer.

Hirai N et al.

Translational Lung Cancer Research, 2021

34733624 (PubMed )
Supplement: tlcr-10-09-3737-supplementary.pdf

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

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

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Pharmacogenomics and Personalized Medicine in Type 2 Diabetes Mellitus: Potential Implications for Clinical Practice.

Venkatachalapathy P et al.

Pharmacogenomics and Personalized Medicine, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Whole exome sequencing reveals novel candidate gene variants for MODY.

Yalçın Çapan Ö et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

32645390 (PubMed )
Supplement: 1-s2.0-S0009898120303211-mmc1.xlsx › Sayfa1

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.

Althari S et al.

American Journal of Human Genetics, 2020

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34

Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.

Sekiya M et al.

Bmc Medical Genetics, 2020

Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Hartman ML et al.

Cells, 2020

31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf

Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes.

Bouldjennet F et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2020

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey.

Beysel S et al.

Bmc Endocrine Disorders, 2019

Body mass index and C-peptide are important for the promptly differential diagnosis of maturity-onset diabetes from familial type 2 diabetes in outpatient clinic.

Wu HX et al.

Endocrine Journal, 2019

Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.

Coco S et al.

Cancers, 2019

30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S3.xlsx › Table_S3

Maternal genetic contribution to pre-pregnancy obesity, gestational weight gain, and gestational diabetes mellitus.

Beysel S et al.

Diabetology & Metabolic Syndrome, 2019

Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran.

Mohammadi A et al.

Advanced Biomedical Research, 2019

Association of Common Variants in HNF1A Gene with Serum AFP Level in Healthy Chinese Individuals and HCC Patients.

Li XJ et al.

Disease Markers, 2019

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.

Locke JM et al.

Diabetes, 2018

Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations.

Ben Khelifa S et al.

Gene, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

p.Q511L mutation of HNF1α in hepatocellular carcinoma suppresses the transcriptional activity and the anti-tumor effect of HNF1α.

Ding CH et al.

Biochemical and Biophysical Research Communications, 2018

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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."