Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.A239V
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HNF1A

NM_000545.8:p.A239V

Associated Papers

Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of GCK-MODY

Kayaş L et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.

Fares E et al.

Frontiers in Genetics, 2023

38028607 (PubMed )
Supplement: Table1.XLSX › Sheet1

Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.

Daggag H et al.

Metabolism Open, 2022

Optimizing maturity-onset diabetes of the young detection in a pediatric diabetes population.

Menon S et al.

Pediatric Diabetes, 2022

Early dynamics of circulating tumor DNA predict clinical response to immune checkpoint inhibitors in metastatic renal cell carcinoma.

Koh Y et al.

International Journal of Urology : Official Journal of the Japanese Urological Association, 2022

35184335 (PubMed )
Supplement: IJU-29-462-s002.xlsx › S1

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

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Heterogeneous responses and resistant mechanisms to crizotinib in ALK-positive advanced non-small cell lung cancer.

Kang J et al.

Thoracic Cancer, 2018

29978950 (PubMed )
Supplement: TCA-9-1093-s006.xlsx › Sheet1

Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese.

Horikawa Y et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2014

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

Mutant HNF-1alpha and mutant HNF-1beta identified in MODY3 and MODY5 downregulate DPP-IV gene expression in Caco-2 cells.

Gu N et al.

Biochemical and Biophysical Research Communications, 2006

Effect of mutations in HNF-1alpha and HNF-1beta on the transcriptional regulation of human sucrase-isomaltase in Caco-2 cells.

Gu N et al.

Biochemical and Biophysical Research Communications, 2004

Molecular profiling-based decision for targeted therapies in IDH wild-type glioblastoma.

Kessler T et al.

Neuro-oncology Advances, 0

32642725 (PubMed )
Supplement: vdz060_suppl_supplementary-table-s3.xlsx › Sheet1
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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."