Varaico: Literature-Extracted Genetic Variants

Gene:GPSM1
Variant:p.S391L
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GPSM1

NM_001145638.3:p.S391L

Associated Papers

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.

Ibrahim TAM et al.

Journal of Diabetes Research, 2025

41376825 (PubMed )
Supplement: 3346256.f1.pdf

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Willems SM et al.

Wellcome Open Research, 2023

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Vujkovic M et al.

Nature Genetics, 2020

32541925 (PubMed )
Supplement: NIHMS1589535-supplement-1589535_Supp_Tab1-26.xlsx › T14

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

Suzuki K et al.

Nature Genetics, 2019

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Mahajan A et al.

Nature Genetics, 2018

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094

The genetic architecture of type 2 diabetes.

Fuchsberger C et al.

Nature, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A07L-01A.domain

Genome-wide association study identifies three novel loci for type 2 diabetes.

Hara K et al.

Human Molecular Genetics, 2014

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.

Huyghe JR et al.

Nature Genetics, 2013

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