Varaico: Literature-Extracted Genetic Variants

Gene:STAT2
Variant:p.M594I
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STAT2

NM_005419.4:p.M594I

Associated Papers

Impact of rare JAK/STAT germline mutations on vaccination-induced innate immune responses in a Tyrolian population.

Hennighausen L et al.

International Journal of Biological Sciences, 2026

Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.

Hennighausen L et al.

Bmc Genomics, 2025

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Nature Communications, 2025

40021644 (PubMed )
Supplement: 41467_2025_56719_MOESM3_ESM.xlsx › Supplementary_Data_20

Association study of the JAK/STAT signaling pathway with susceptibility to COVID-19 in moroccan patient and in-silico analysis of rare variants.

El Houdi M et al.

Virus Research, 2025

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37873414 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_16

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Genetic variability in COVID-19-related genes in the Brazilian population.

Secolin R et al.

Human Genome Variation, 2021

33824725 (PubMed )
Supplement: 41439_2021_146_MOESM3_ESM.xlsx › In_silico_prediction_results

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Dand N et al.

Human Molecular Genetics, 2017

A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Budu-Aggrey A et al.

Annals of the Rheumatic Diseases, 2017

28501801 (PubMed )
Supplement: annrheumdis-2016-210592supp001.pdf

A Molecular Evolutionary Reference for the Human Variome.

Liu L et al.

Molecular Biology and Evolution, 2016

Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Creixell P et al.

Cell, 2015

26388441 (PubMed )
Supplement: mmc10.zip › DataFileS5_ReKINectOutputOvise.xlsx › Ovise.standardfilteringd10_Mut_

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-A0A6-01A.domain

Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Duan J et al.

Scientific Reports, 2013

23422947 (PubMed )
Supplement: srep01318-s2.xls › S7

An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.

Landa I et al.

Plos One, 2013

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

Tsoi LC et al.

Nature Genetics, 2012

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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."