STAT1 c.2239-153A>C

Variant ID: 2-191835596-T-G

NM_007315.3(STAT1):c.2239-153A>C

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Human Genome Polymorphisms and Computational Intelligence Approach Revealed a Complex Genomic Signature for COVID-19 Severity in Brazilian Patients.

Viruses
Pastor, André Filipe AF; Docena, Cássia C; Rezende, Antônio Mauro AM; Oliveira, Flávio Rosendo da Silva FRDS; Sena, Marília de Albuquerque MA; Morais, Clarice Neuenschwander Lins de CNL; Bresani-Salvi, Cristiane Campello CC; Vasconcelos, Luydson Richardson Silva LRS; Valença, Kennya Danielle Campelo KDC; Mariz, Carolline de Araújo CA; Brito, Carlos C; Fonseca, Cláudio Duarte CD; Braga, Cynthia C; Reis, Christian Robson de Souza CRS; Marques, Ernesto Torres de Azevedo ETA; Acioli-Santos, Bartolomeu B
Publication Date: 2023-02-28

Variant appearance in text: rs3771300
PubMed Link: 36992353
Variant Present in the following documents:
  • Main text
  • viruses-15-00645.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3771300
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: STAT1: 2239-153A>C; rs3771300
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Immunorelated gene polymorphisms associated with acute myeloid leukemia.

Clinical And Experimental Immunology
Liu, Q Q; Hua, M M; Yan, S S; Zhang, C C; Wang, R R; Yang, X X; Han, F F; Hou, M M; Ma, D D
Publication Date: 2020-09

Variant appearance in text: rs3771300
PubMed Link: 32349161
Variant Present in the following documents:
  • Main text
View BVdb publication page



STAT gene family mRNA expression and prognostic value in hepatocellular carcinoma.

Oncotargets And Therapy
Dong, Zhitao Z; Chen, Yi Y; Yang, Cheng C; Zhang, Meng M; Chen, Aixue A; Yang, Jiamei J; Huang, Yangqing Y
Publication Date: 2019

Variant appearance in text: rs3771300
PubMed Link: 31564902
Variant Present in the following documents:
  • Main text
  • ott-12-7175.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: STAT1: 2239-153A>C; rs3771300
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs3771300
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Immune-related gene polymorphisms in pulmonary diseases.

Toxicology
Singh, Dhirendra P DP; Bagam, Prathyusha P; Sahoo, Malaya K MK; Batra, Sanjay S
Publication Date: 2017-05-15

Variant appearance in text: rs3771300
PubMed Link: 28366820
Variant Present in the following documents:
  • Main text
View BVdb publication page



No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population.

European Journal Of Human Genetics : Ejhg
Meyer, Christian G CG; Intemann, Christopher D CD; Förster, Birgit B; Owusu-Dabo, Ellis E; Franke, Andre A; Horstmann, Rolf D RD; Thye, Thorsten T
Publication Date: 2016-05

Variant appearance in text: rs3771300
PubMed Link: 26242990
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between the Interaction of Key Genes Involved in Effector T-Cell Pathways and Susceptibility to Develop allergic Rhinitis: A Population-Based Case-Control Association Study.

Plos One
Zhang, Yuan Y; Li, Jingyun J; Wang, Chengshuo C; Zhang, Luo L
Publication Date: 2015

Variant appearance in text: rs3771300
PubMed Link: 26196693
Variant Present in the following documents:
  • Main text
  • pone.0131248.pdf
View BVdb publication page



Genetic variation in the JAK/STAT/SOCS signaling pathway influences breast cancer-specific mortality through interaction with cigarette smoking and use of aspirin/NSAIDs: the Breast Cancer Health Disparities Study.

Breast Cancer Research And Treatment
Slattery, Martha L ML; Lundgreen, Abbie A; Hines, Lisa M LM; Torres-Mejia, Gabriela G; Wolff, Roger K RK; Stern, Mariana C MC; John, Esther M EM
Publication Date: 2014-08

Variant appearance in text: rs3771300
PubMed Link: 25104439
Variant Present in the following documents:
  • Main text
View BVdb publication page



Wheezing and itching: The requirement for STAT proteins in allergic inflammation.

Jak-Stat
Glosson, Nicole L NL; Bruns, Heather A HA; Kaplan, Mark H MH
Publication Date: 2012-01-01

Variant appearance in text: rs3771300
PubMed Link: 24058746
Variant Present in the following documents:
  • Main text
  • jkst-1-3.pdf
View BVdb publication page



STAT proteins - key regulators of anti-viral responses, inflammation, and tumorigenesis in the liver.

Journal Of Hepatology
Gao, Bin B; Wang, Hua H; Lafdil, Fouad F; Feng, Dechun D
Publication Date: 2012-08

Variant appearance in text: rs3771300
PubMed Link: 22504331
Variant Present in the following documents:
  • Main text
View BVdb publication page



JAK/STAT/SOCS-signaling pathway and colon and rectal cancer.

Molecular Carcinogenesis
Slattery, Martha L ML; Lundgreen, Abbie A; Kadlubar, Susan A SA; Bondurant, Kristina L KL; Wolff, Roger K RK
Publication Date: 2013-02

Variant appearance in text: rs3771300
PubMed Link: 22121102
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interleukin-22 suppresses the growth of A498 renal cell carcinoma cells via regulation of STAT1 pathway.

Plos One
Zhang, Fengbo F; Shang, Donghao D; Zhang, Yuhai Y; Tian, Ye Y
Publication Date: 2011

Variant appearance in text: rs3771300
PubMed Link: 21625390
Variant Present in the following documents:
  • Main text
  • pone.0020382.pdf
View BVdb publication page



Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region.

Arthritis Research & Therapy
Kawasaki, Aya A; Ito, Ikue I; Hikami, Koki K; Ohashi, Jun J; Hayashi, Taichi T; Goto, Daisuke D; Matsumoto, Isao I; Ito, Satoshi S; Tsutsumi, Akito A; Koga, Minori M; Arinami, Tadao T; Graham, Robert R RR; Hom, Geoffrey G; Takasaki, Yoshinari Y; Hashimoto, Hiroshi H; Behrens, Timothy W TW; Sumida, Takayuki T; Tsuchiya, Naoyuki N
Publication Date: 2008

Variant appearance in text: rs3771300
PubMed Link: 18803832
Variant Present in the following documents:
  • Main text
  • ar2516.pdf
View BVdb publication page