Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.R171Q
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HNF1A

NM_000545.8:p.R171Q

Associated Papers

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

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

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma.

Tompa M et al.

International Journal of Molecular Sciences, 2024

39062807 (PubMed )
Supplement: ijms-25-07564-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S3

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

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

Ren XY et al.

Pharmacogenomics and Personalized Medicine, 2022

Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Scholl SM et al.

Ebiomedicine, 2020

33096476 (PubMed )
Supplement: mmc2.xlsx › RAIDS_algo_filtering_wLOH_forma

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

Althari S et al.

American Journal of Human Genetics, 2020

ARID1B alterations identify aggressive tumors in neuroblastoma.

Lee SH et al.

Oncotarget, 2017

28521285 (PubMed )
Supplement: oncotarget-08-45943-s002.xlsx › SupplTable2
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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."