Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.R203S
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HNF1A

NM_000545.8:p.R203S

Associated Papers

Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.

DeForest N et al.

Cell Genomics, 2023

37492105 (PubMed )
Supplement: mmc4.xlsx › S3

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

Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.

Prieto-Potin I et al.

Diagnostics (basel, Switzerland), 2022

36010253 (PubMed )
Supplement: diagnostics-12-01903-s001.zip › Table_S3._OCA_v3_RAW_DATA.xlsx › GENERAL

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations.

Alvelos MI et al.

Journal of Clinical Medicine, 2020

Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.

Ushijima K et al.

Pediatric Diabetes, 2018

Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age.

Moritani M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

Interleukin-18 gene polymorphisms and rheumatoid arthritis: a meta-analysis.

Ji JD et al.

Gene, 2013

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K et al.

Human Mutation, 2013

Association of IL-12, IL-18 variants and serum IL-18 with bladder cancer susceptibility in North Indian population.

Jaiswal PK et al.

Gene, 2013

The Interleukin-18 promoter -607C>A polymorphism contributes to nasopharyngeal carcinoma risk: evidence from a meta-analysis including 1,886 subjects.

Guo XG et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

Interleukin-18 gene promoter polymorphisms and the risk of esophageal squamous cell carcinoma.

Wei YS et al.

Acta Oncologica (stockholm, Sweden), 2007

Do IL-4 intron 3 VNTR and IL-6 (-174) G/C variants reflect ethnic variation? A comparative study between the global and North Indian populations.

Kesarwani P et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 0

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