IL4R c.2254T>G ;(p.S752A)

Variant ID: 16-27374927-T-G

NM_000418.3(IL4R):c.2254T>G;(p.S752A)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: IL4R: S752A
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



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: IL4R: S752A
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Possible Roles of Interleukin-4 and -13 and Their Receptors in Gastric and Colon Cancer.

International Journal Of Molecular Sciences
Song, Xujun X; Traub, Benno B; Shi, Jingwei J; Kornmann, Marko M
Publication Date: 2021-01-13

Variant appearance in text: rs1805016
PubMed Link: 33450900
Variant Present in the following documents:
  • ijms-22-00727-s001.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: IL4R: S752A; rs1805016
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Association between Interleukin-4 Receptor Polymorphisms and Cancer Susceptibility: A Meta-Analysis Based on 53 Case-Control Studies.

Journal Of Cancer
Qi, Yong Y; Zeng, Taofei T; Fan, Song S; Zhang, Li L; Liang, Chaozhao C
Publication Date: 2019

Variant appearance in text: rs1805016
PubMed Link: 31031864
Variant Present in the following documents:
  • Main text
  • jcav10p1538.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: IL4R: S752A; rs1805016
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Association of cytokine gene polymorphisms with osteoarthritis susceptibility.

Experimental And Therapeutic Medicine
Rogoveanu, Otilia Constantina OC; Calina, Daniela D; Cucu, Mihai Gabriel MG; Burada, Florin F; Docea, Anca Oana AO; Sosoi, Simona S; Stefan, Emilian E; Ioana, Mihai M; Burada, Emilia E
Publication Date: 2018-09

Variant appearance in text: rs1805016
PubMed Link: 30186498
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide scan of the effect of common nsSNPs on colorectal cancer survival outcome.

British Journal Of Cancer
Theodoratou, Evropi E; Farrington, Susan M SM; Timofeeva, Maria M; Din, Farhat Vn FV; Svinti, Victoria V; Tenesa, Albert A; Liu, Tao T; Lindblom, Annika A; Gallinger, Steven S; Campbell, Harry H; Dunlop, Malcolm G MG
Publication Date: 2018-10

Variant appearance in text: rs1805016
PubMed Link: 30135471
Variant Present in the following documents:
  • Main text
  • 41416_2018_Article_117.pdf
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: IL4R: S752A; rs1805016
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Polymorphism in the IL4R gene and clinical features are associated with glioma prognosis: Analyses of case-cohort studies.

Medicine
Jin, Tian Bo TB; Du, Shuli S; Zhu, Xi Kai XK; Li, Gang G; Ouyang, Yongri Y; He, Na N; Zhang, Zhiying Z; Zhang, Yuan Y; Kang, Longli L; Yuan, Dongya D
Publication Date: 2016-08

Variant appearance in text: rs1805016
PubMed Link: 27495027
Variant Present in the following documents:
  • Main text
  • medi-95-e4231.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1805016
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: IL4R: S752A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: IL4R: S752A; rs1805016
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Variations in the TNFα gene and their interactions with the IL4R and IL10 genes in relation to hand osteoarthritis.

Bmc Musculoskeletal Disorders
Hämäläinen, Satu S; Solovieva, Svetlana S; Vehmas, Tapio T; Leino-Arjas, Päivi P; Hirvonen, Ari A
Publication Date: 2014-09-24

Variant appearance in text: IL4R: Ser752Ala; rs1805016
PubMed Link: 25252624
Variant Present in the following documents:
  • Main text
  • 12891_2014_Article_2249.pdf
View BVdb publication page



PI3K pathway inhibitors: potential prospects as adjuncts to vaccine immunotherapy for glioblastoma.

Immunotherapy
Oh, Taemin T; Ivan, Michael E ME; Sun, Matthew Z MZ; Safaee, Michael M; Fakurnejad, Shayan S; Clark, Aaron J AJ; Sayegh, Eli T ET; Bloch, Orin O; Parsa, Andrew T AT
Publication Date: 2014

Variant appearance in text: rs1805016
PubMed Link: 25186604
Variant Present in the following documents:
  • Main text
View BVdb publication page



Occupational and genetic risk factors for osteoarthritis: a review.

Work (Reading, Mass.)
Yucesoy, Berran B; Charles, Luenda E LE; Baker, Brent B; Burchfiel, Cecil M CM
Publication Date: 2015-01-01

Variant appearance in text: rs1805016
PubMed Link: 24004806
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced type II interleukin-4 receptor signalling drives initiation, but not progression, of colorectal carcinogenesis: evidence from transgenic mouse models and human case-control epidemiological observations.

Carcinogenesis
Ingram, Nicola N; Northwood, Emma L EL; Perry, Sarah L SL; Marston, Gemma G; Snowden, Helen H; Taylor, John C JC; Scott, Nigel N; Bishop, D Timothy DT; Coletta, P Louise PL; Hull, Mark A MA
Publication Date: 2013-10

Variant appearance in text: rs1805016
PubMed Link: 23784081
Variant Present in the following documents:
  • Main text
  • bgt222.pdf
View BVdb publication page



Single-nucleotide polymorphisms of allergy-related genes and risk of adult glioma.

Journal Of Neuro-Oncology
Backes, Danielle M DM; Siddiq, Afshan A; Cox, David G DG; Calboli, Federico C F FC; Gaziano, J Michael JM; Ma, Jing J; Stampfer, Meir M; Hunter, David J DJ; Camargo, Carlos A CA; Michaud, Dominique S DS
Publication Date: 2013-06

Variant appearance in text: rs1805016
PubMed Link: 23525950
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.

Leukemia Research
D'Amelio, Anthony M AM; Monroy, Claudia C; El-Zein, Randa R; Etzel, Carol J CJ
Publication Date: 2012-11

Variant appearance in text: rs1805016
PubMed Link: 22902050
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

Plos One
Hildebrandt, Michelle A T MA; Komaki, Ritsuko R; Liao, Zhongxing Z; Gu, Jian J; Chang, Joe Y JY; Ye, Yuanqing Y; Lu, Charles C; Stewart, David J DJ; Minna, John D JD; Roth, Jack A JA; Lippman, Scott M SM; Cox, James D JD; Hong, Waun Ki WK; Spitz, Margaret R MR; Wu, Xifeng X
Publication Date: 2010-08-25

Variant appearance in text: IL4R: Ser752Ala; rs1805016
PubMed Link: 20811626
Variant Present in the following documents:
  • Main text
  • pone.0012402.pdf
View BVdb publication page



Genetic variants in inflammation pathway genes and asthma in glioma susceptibility.

Neuro-Oncology
Amirian, E E; Liu, Yanhong Y; Scheurer, Michael E ME; El-Zein, Randa R; Gilbert, Mark R MR; Bondy, Melissa L ML
Publication Date: 2010-05

Variant appearance in text: rs1805016
PubMed Link: 20406895
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overview of the Rapid Response data.

Genes And Immunity
Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,
Publication Date: 2009-12

Variant appearance in text: rs1805016
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analysis of SNPs in the IL4R locus with type I diabetes.

Genes And Immunity
Erlich, H A HA; Lohman, K K; Mack, S J SJ; Valdes, A M AM; Julier, C C; Mirel, D D; Noble, J A JA; Morahan, G E GE; Rich, S S SS; ,
Publication Date: 2009-12

Variant appearance in text: IL4R: S752A; rs1805016
PubMed Link: 19956098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of inflammation gene polymorphisms on pain severity in lung cancer patients.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Reyes-Gibby, Cielito C CC; Spitz, Margaret R MR; Yennurajalingam, Sriram S; Swartz, Michael M; Gu, Jian J; Wu, Xifeng X; Bruera, Eduardo E; Shete, Sanjay S
Publication Date: 2009-10

Variant appearance in text: rs1805016
PubMed Link: 19773451
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cytokine and cytokine receptor single-nucleotide polymorphisms predict risk for non-small cell lung cancer among women.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angie S AS; Chen, Wei W; Abrams, Judith J; Land, Susan S; Giroux, Craig N CN; Schwartz, Ann G AG
Publication Date: 2009-06

Variant appearance in text: rs1805016
PubMed Link: 19505916
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

Cytokine
Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angie S AS; Land, Susan S; Schwartz, Ann G AG
Publication Date: 2009-05

Variant appearance in text: rs1805016
PubMed Link: 19356949
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: rs1805016
PubMed Link: 17705862
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ethnicity-specific gene-gene interaction between IL-13 and IL-4Ralpha among African Americans with asthma.

American Journal Of Respiratory And Critical Care Medicine
Battle, Natalie C NC; Choudhry, Shweta S; Tsai, Hui-Ju HJ; Eng, Celeste C; Kumar, Gunjan G; Beckman, Kenneth B KB; Naqvi, Mariam M; Meade, Kelley K; Watson, H George HG; Lenoir, Michael M; Burchard, Esteban González EG; ,
Publication Date: 2007-05-01

Variant appearance in text: rs1805016
PubMed Link: 17303794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

Respiratory Research
Wjst, Matthias M; Altmüller, Janine J; Faus-Kessler, Theresia T; Braig, Christine C; Bahnweg, Margret M; André, Elisabeth E
Publication Date: 2006-04-06

Variant appearance in text: rs1805016
PubMed Link: 16600026
Variant Present in the following documents:
  • Main text
  • 1465-9921-7-60.pdf
View BVdb publication page