Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.P289fs
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HNF1A

NM_000545.8:p.P289fs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

Oncogenic NFE2L2 mutations in plasma ctDNA and tumors are predictors and prognosticators of chemoradiation therapy in resectable esophageal squamous cell carcinoma.

Ko JM et al.

British Journal of Cancer, 2025

40781161 (PubMed )
Supplement: 41416_2025_3113_MOESM1_ESM.pdf

Effect of SGLT2 Inhibition on Glucosuria During a Hyperglycemic Clamp in HNF1A-MODY (MODY3) and Type 2 Diabetes.

Maagensen H et al.

Diabetes Care, 2025

MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.

Miller AR et al.

Bmc Cancer, 2025

40849662 (PubMed )
Supplement: 12885_2025_14711_MOESM2_ESM.xlsx › TableS6

Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.

Ambroziak M et al.

International Journal of Molecular Sciences, 2025

40076866 (PubMed )
Supplement: ijms-26-02244-s001.zip › ijms-3484719-supplementary.xlsx › data_1

Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran.

Asgarian S et al.

Scientific Reports, 2024

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

Screening for monogenic subtypes of gestational diabetes in a high prevalence island population - A whole exome sequencing study.

Pace NP et al.

Diabetes/metabolism Research and Reviews, 2022

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_7.xlsx › Table_S7

Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Ju Y et al.

Frontiers in Genetics, 2021

34194478 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S6

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › INDEL

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

Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease.

Marjanovic I et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016

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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."