Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.R114H
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HNF1A

NM_000545.8:p.R114H

Associated Papers

The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.

Nguyen DD et al.

Nature, 2024

39385020 (PubMed )
Supplement: 41586_2024_7955_MOESM11_ESM.xlsx › Figure_3e

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

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

An Investigation of the Immune Microenvironment and Genome during Lung Adenocarcinoma Development.

Wang Q et al.

Journal of Cancer, 2024

38370388 (PubMed )
Supplement: jcav15p1687s1.zip › Supplementary_Materials › Clinical_and_Genomic_Data.xlsx › Gene_mutation

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

NOTCH1 mutation associates with impaired immune response and decreased relapse-free survival in patients with resected T1-2N0 laryngeal cancer.

Gong XY et al.

Frontiers in Immunology, 2022

35911687 (PubMed )
Supplement: DataSheet_1.zip › onco500_qc_pass_20211125-42.xlsx › somatic

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS

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

Althari S et al.

American Journal of Human Genetics, 2020

Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2.

Gardner HL et al.

Communications Biology, 2019

31341965 (PubMed )
Supplement: 42003_2019_487_MOESM10_ESM.xlsx › Primary_Tumor

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Najmi LA et al.

Diabetes, 2017

27899486 (PubMed )
Supplement: DB160460SupplementaryData.pdf

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
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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."