Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.N62S
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HNF1A

NM_000545.8:p.N62S

Associated Papers

The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.

Stalbow LA et al.

Diabetologia, 2023

36216889 (PubMed )
Supplement: 125_2022_5806_MOESM2_ESM.xlsx › ESM_Table_1

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.

Ivanoshchuk DE et al.

Journal of Personalized Medicine, 2021

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

Althari S et al.

American Journal of Human Genetics, 2020

32910913 (PubMed )
Supplement: mmc1.pdf

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

Najmi LA et al.

Diabetes, 2017

Novel oncogene and tumor suppressor mutations in KIT and PDGFRA wild type gastrointestinal stromal tumors revealed by next generation sequencing.

Hechtman JF et al.

Genes, Chromosomes & Cancer, 2015

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

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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."