Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.T441K
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HNF1A

NM_000545.8:p.T441K

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

A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.

Çubuk H et al.

The Protein Journal, 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

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon
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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."