STAT1 c.1874-8C>T

Variant ID: 2-191841759-G-A

NM_007315.3(STAT1):c.1874-8C>T

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2066804
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs2066804
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2066804
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs2066804
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs2066804
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: STAT1: 1874-8C>T; rs2066804
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2066804
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs2066804
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs2066804
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
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: 1874-8C>T; rs2066804
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2066804
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs2066804
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
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: rs2066804
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: rs2066804
PubMed Link: 26196693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Yang, Bo B; Heng, Liang L; Du, Shuli S; Yang, Hua H; Jin, Tianbo T; Lang, Hongjun H; Li, Shanqu S
Publication Date: 2015-07-09

Variant appearance in text: rs2066804
PubMed Link: 26156397
Variant Present in the following documents:
  • Main text
  • medscimonit-21-1983.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: rs2066804
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Nontuberculous mycobacterial infection in a clinical presentation of Fitz-Hugh-Curtis syndrome: a case report with multigene diagnostic approach.

Bmc Women'S Health
Jang, Hang-Yong HY; Burbelo, Peter D PD; Chae, Yang-Seok YS; Kim, Tak T; Cho, Yunjung Y; Park, Hyun-Tae HT
Publication Date: 2014-08-12

Variant appearance in text: rs2066804
PubMed Link: 25115526
Variant Present in the following documents:
  • Main text
  • 1472-6874-14-95.pdf
View BVdb publication page



New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Journal Of Medical Genetics
Soltész, Beáta B; Tóth, Beáta B; Shabashova, Nadejda N; Bondarenko, Anastasia A; Okada, Satoshi S; Cypowyj, Sophie S; Abhyankar, Avinash A; Csorba, Gabriella G; Taskó, Szilvia S; Sarkadi, Adrien Katalin AK; Méhes, Leonóra L; Rozsíval, Pavel P; Neumann, David D; Chernyshova, Liudmyla L; Tulassay, Zsolt Z; Puel, Anne A; Casanova, Jean-Laurent JL; Sediva, Anna A; Litzman, Jiri J; Maródi, László L
Publication Date: 2013-09

Variant appearance in text: rs2066804
PubMed Link: 23709754
Variant Present in the following documents:
  • Main text
  • jmedgenet-2013-101570.pdf
View BVdb publication page



Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.

Hepatology (Baltimore, Md.)
Welzel, Tania Mara TM; Morgan, Timothy R TR; Bonkovsky, Herbert L HL; Naishadham, Deepa D; Pfeiffer, Ruth M RM; Wright, Elizabeth C EC; Hutchinson, Amy A AA; Crenshaw, Andrew T AT; Bashirova, Arman A; Carrington, Mary M; Dotrang, Myhanh M; Sterling, Richard K RK; Lindsay, Karen L KL; Fontana, Robert J RJ; Lee, William M WM; Di Bisceglie, Adrian M AM; Ghany, Marc G MG; Gretch, David R DR; Chanock, Stephen J SJ; Chung, Raymond T RT; O'Brien, Thomas R TR; ,
Publication Date: 2009-06

Variant appearance in text: rs2066804
PubMed Link: 19434718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variation in genes related to innate immunity and risk of adult glioma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Rajaraman, Preetha P; Brenner, Alina V AV; Butler, Mary Ann MA; Wang, Sophia S SS; Pfeiffer, Ruth M RM; Ruder, Avima M AM; Linet, Martha S MS; Yeager, Meredith M; Wang, Zhaoming Z; Orr, Nick N; Fine, Howard A HA; Kwon, Deukwoo D; Thomas, Gilles G; Rothman, Nathaniel N; Inskip, Peter D PD; Chanock, Stephen J SJ
Publication Date: 2009-05

Variant appearance in text: rs2066804
PubMed Link: 19423540
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.

Blood
Colt, Joanne S JS; Rothman, Nathaniel N; Severson, Richard K RK; Hartge, Patricia P; Cerhan, James R JR; Chatterjee, Nilanjan N; Cozen, Wendy W; Morton, Lindsay M LM; De Roos, Anneclaire J AJ; Davis, Scott S; Chanock, Stephen S; Wang, Sophia S SS
Publication Date: 2009-02-26

Variant appearance in text: rs2066804
PubMed Link: 19066394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.

The Journal Of Infectious Diseases
Wang, Sophia S SS; Bratti, M Concepcion MC; Rodríguez, Ana Cecilia AC; Herrero, Rolando R; Burk, Robert D RD; Porras, Carolina C; González, Paula P; Sherman, Mark E ME; Wacholder, Sholom S; Lan, Z Elizabeth ZE; Schiffman, Mark M; Chanock, Stephen J SJ; Hildesheim, Allan A
Publication Date: 2009-01-01

Variant appearance in text: rs2066804
PubMed Link: 19012493
Variant Present in the following documents:
  • Main text
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: rs2066804
PubMed Link: 18803832
Variant Present in the following documents:
  • Main text
  • ar2516.pdf
View BVdb publication page



Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.

Blood
Habermann, Thomas M TM; Wang, Sophia S SS; Maurer, Matthew J MJ; Morton, Lindsay M LM; Lynch, Charles F CF; Ansell, Stephen M SM; Hartge, Patricia P; Severson, Richard K RK; Rothman, Nathaniel N; Davis, Scott S; Geyer, Susan M SM; Cozen, Wendy W; Chanock, Stephen J SJ; Cerhan, James R JR
Publication Date: 2008-10-01

Variant appearance in text: rs2066804
PubMed Link: 18633131
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.

Blood
Cerhan, James R JR; Wang, Sophia S; Maurer, Matthew J MJ; Ansell, Stephen M SM; Geyer, Susan M SM; Cozen, Wendy W; Morton, Lindsay M LM; Davis, Scott S; Severson, Richard K RK; Rothman, Nathaniel N; Lynch, Charles F CF; Wacholder, Sholom S; Chanock, Stephen J SJ; Habermann, Thomas M TM; Hartge, Patricia P
Publication Date: 2007-06-15

Variant appearance in text: rs2066804
PubMed Link: 17327408
Variant Present in the following documents:
  • Main text
View BVdb publication page