IL11 c.246G>A ;(p.A82=)

Variant ID: 19-55879872-C-T

NM_000641.3(IL11):c.246G>A;(p.A82=)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: N/A
PubMed Link: 36241656
Variant Present in the following documents:
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: N/A
PubMed Link: 36075891
Variant Present in the following documents:
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: N/A
PubMed Link: 35982159
Variant Present in the following documents:
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: IL11: 246G>A; rs1126757
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.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: N/A
PubMed Link: 33791233
Variant Present in the following documents:
View BVdb publication page



Smoking and heart failure: a Mendelian randomization and mediation analysis.

Esc Heart Failure
Lu, Yunlong Y; Xu, Zhouming Z; Georgakis, Marios K MK; Wang, Zhen Z; Lin, Hefeng H; Zheng, Liangrong L
Publication Date: 2021-06

Variant appearance in text: rs1126757
PubMed Link: 33656795
Variant Present in the following documents:
  • EHF2-8-1954-s001.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: N/A
PubMed Link: 33420045
Variant Present in the following documents:
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: N/A
PubMed Link: 32529721
Variant Present in the following documents:
View BVdb publication page



The Relationship between DNA Methylation and Antidepressant Medications: A Systematic Review.

International Journal Of Molecular Sciences
Webb, Lauren M LM; Phillips, Kathryn E KE; Ho, Man Choi MC; Veldic, Marin M; Blacker, Caren J CJ
Publication Date: 2020-01-28

Variant appearance in text: rs1126757
PubMed Link: 32012861
Variant Present in the following documents:
  • Main text
  • ijms-21-00826.pdf
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: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: IL11: 246G>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs1126757
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_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: IL11: 246G>A; rs1126757
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Reframing the Biological Basis of Neuroprotection Using Functional Genomics: Differentially Weighted, Time-Dependent Multifactor Pathogenesis of Human Ischemic Brain Damage.

Frontiers In Neurology
Kofke, William A WA; Ren, Yue Y; Augoustides, John G JG; Li, Hongzhe H; Nathanson, Katherine K; Siman, Robert R; Meng, Qing Cheng QC; Bu, Weiming W; Yandrawatthana, Sukanya S; Kositratna, Guy G; Kim, Cecilia C; Bavaria, Joseph E JE
Publication Date: 2018

Variant appearance in text: rs1126757
PubMed Link: 29997569
Variant Present in the following documents:
  • Main text
  • fneur-09-00497.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: N/A
PubMed Link: 29221171
Variant Present in the following documents:
View BVdb publication page



Pharmacogenomics in the treatment of mood disorders: Strategies and Opportunities for personalized psychiatry.

The Epma Journal
Amare, Azmeraw T AT; Schubert, Klaus Oliver KO; Baune, Bernhard T BT
Publication Date: 2017-09

Variant appearance in text: rs1126757
PubMed Link: 29021832
Variant Present in the following documents:
  • Main text
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: rs1126757
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Colonic Phenotypes Are Associated with Poorer Response to Anti-TNF Therapies in Patients with IBD.

Inflammatory Bowel Diseases
Yoon, Soon Man SM; Haritunians, Talin T; Chhina, Sultan S; Liu, Zhenqiu Z; Yang, Shaohong S; Landers, Carol C; Li, Dalin D; Ye, Byong Duk BD; Shih, David D; Vasiliauskas, Eric A EA; Ippoliti, Andrew A; Rabizadeh, Shervin S; Targan, Stephan R SR; Melmed, Gil Y GY; McGovern, Dermot P B DPB
Publication Date: 2017-08

Variant appearance in text: rs1126757
PubMed Link: 28590340
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 28535796
Variant Present in the following documents:
View BVdb publication page



Genetic Contributions of Inflammation to Depression.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Barnes, Jacob J; Mondelli, Valeria V; Pariante, Carmine M CM
Publication Date: 2017-01

Variant appearance in text: rs1126757
PubMed Link: 27555379
Variant Present in the following documents:
  • Main text
  • npp2016169a.pdf
View BVdb publication page



Absolute Measurements of Macrophage Migration Inhibitory Factor and Interleukin-1-β mRNA Levels Accurately Predict Treatment Response in Depressed Patients.

The International Journal Of Neuropsychopharmacology
Cattaneo, Annamaria A; Ferrari, Clarissa C; Uher, Rudolf R; Bocchio-Chiavetto, Luisella L; Riva, Marco Andrea MA; , ; Pariante, Carmine M CM
Publication Date: 2016-10

Variant appearance in text: rs1126757
PubMed Link: 27207917
Variant Present in the following documents:
  • Main text
  • pyw045.pdf
View BVdb publication page



Epigenetics of Aging and Alzheimer's Disease: Implications for Pharmacogenomics and Drug Response.

International Journal Of Molecular Sciences
Cacabelos, Ramón R; Torrellas, Clara C
Publication Date: 2015-12-21

Variant appearance in text: rs1126757
PubMed Link: 26703582
Variant Present in the following documents:
  • Main text
  • ijms-16-26236.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: N/A
PubMed Link: 25944692
Variant Present in the following documents:
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Epigenetic alterations in depression and antidepressant treatment.

Dialogues In Clinical Neuroscience
Menke, Andreas A; Binder, Elisabeth B EB
Publication Date: 2014-09

Variant appearance in text: rs1126757
PubMed Link: 25364288
Variant Present in the following documents:
  • Main text
  • DialoguesClinNeurosci-16-395.pdf
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: N/A
PubMed Link: 24219164
Variant Present in the following documents:
View BVdb publication page



DNA methylation in interleukin-11 predicts clinical response to antidepressants in GENDEP.

Translational Psychiatry
Powell, T R TR; Smith, R G RG; Hackinger, S S; Schalkwyk, L C LC; Uher, R R; McGuffin, P P; Mill, J J; Tansey, K E KE
Publication Date: 2013-09-03

Variant appearance in text: rs1126757
PubMed Link: 24002086
Variant Present in the following documents:
  • Main text
View BVdb publication page



A dialogue between the immune system and brain, spoken in the language of serotonin.

Acs Chemical Neuroscience
Baganz, Nicole L NL; Blakely, Randy D RD
Publication Date: 2013-01-16

Variant appearance in text: rs1126757
PubMed Link: 23336044
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics of selective serotonin reuptake inhibitor treatment for major depressive disorder: genome-wide associations and functional genomics.

The Pharmacogenomics Journal
Ji, Y Y; Biernacka, J M JM; Hebbring, S S; Chai, Y Y; Jenkins, G D GD; Batzler, A A; Snyder, K A KA; Drews, M S MS; Desta, Z Z; Flockhart, D D; Mushiroda, T T; Kubo, M M; Nakamura, Y Y; Kamatani, N N; Schaid, D D; Weinshilboum, R M RM; Mrazek, D A DA
Publication Date: 2013-10

Variant appearance in text: rs1126757
PubMed Link: 22907730
Variant Present in the following documents:
  • Main text
  • nihms394558.pdf
View BVdb publication page



Genome-wide approaches to antidepressant treatment: working towards understanding and predicting response.

Genome Medicine
Hodgson, Karen K; Mufti, Shaista Jeelani SJ; Uher, Rudolf R; McGuffin, Peter P
Publication Date: 2012-06-27

Variant appearance in text: rs1126757
PubMed Link: 22738351
Variant Present in the following documents:
  • Main text
  • gm351.pdf
View BVdb publication page



Pharmacogenetics of antidepressant response.

Journal Of Psychiatry & Neuroscience : Jpn
Porcelli, Stefano S; Drago, Antonio A; Fabbri, Chiara C; Gibiino, Sara S; Calati, Raffaella R; Serretti, Alessandro A
Publication Date: 2011-03

Variant appearance in text: rs1126757
PubMed Link: 21172166
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies of antidepressant outcome: a brief review.

Progress In Neuro-Psychopharmacology & Biological Psychiatry
Laje, Gonzalo G; McMahon, Francis J FJ
Publication Date: 2011-08-15

Variant appearance in text: rs1126757
PubMed Link: 21115088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.

Bmc Genomics
Pullat, Janne J; Fleischer, Robert R; Becker, Nikolaus N; Beier, Markus M; Metspalu, Andres A; Hoheisel, Jörg D JD
Publication Date: 2007-08-17

Variant appearance in text: rs1126757
PubMed Link: 17705862
Variant Present in the following documents:
  • Main text
  • 1471-2164-8-282.pdf
View BVdb publication page