IL4R c.1242G>T ;(p.L414=)

Variant ID: 16-27373915-G-T

NM_000418.3(IL4R):c.1242G>T;(p.L414=)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: IL4R: 1242G>T; L414L; rs2234898
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
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: L414L
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
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: IL4R: 1242G>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
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: IL4R: L414L; rs2234898
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
  • oncotarget-08-95841-s002.xlsx, sheet 1
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: L414L; rs2234898
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: IL4R: L414L; rs2234898
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Impact of cytokine and cytokine receptor gene polymorphisms on cellular immunity after smallpox vaccination.

Gene
Ovsyannikova, Inna G IG; Haralambieva, Iana H IH; Kennedy, Richard B RB; Pankratz, V Shane VS; Vierkant, Robert A RA; Jacobson, Robert M RM; Poland, Gregory A GA
Publication Date: 2012-11-15

Variant appearance in text: IL4R: Leu414Leu; rs2234898
PubMed Link: 23009887
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unifying candidate gene and GWAS Approaches in Asthma.

Plos One
Michel, Sven S; Liang, Liming L; Depner, Martin M; Klopp, Norman N; Ruether, Andreas A; Kumar, Ashish A; Schedel, Michaela M; Vogelberg, Christian C; von Mutius, Erika E; von Berg, Andrea A; Bufe, Albrecht A; Rietschel, Ernst E; Heinzmann, Andrea A; Laub, Otto O; Simma, Burkhard B; Frischer, Thomas T; Genuneit, Jon J; Gut, Ivo G IG; Schreiber, Stefan S; Lathrop, Mark M; Illig, Thomas T; Kabesch, Michael M
Publication Date: 2010-11-12

Variant appearance in text: rs2234898
PubMed Link: 21103062
Variant Present in the following documents:
View BVdb publication page



The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

Genes And Immunity
Julier, C C; Akolkar, B B; Concannon, P P; Morahan, G G; Nierras, C C; Pugliese, A A; ,
Publication Date: 2009-12

Variant appearance in text: rs2234898
PubMed Link: 19956109
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: L414L; rs2234898
PubMed Link: 19956098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-environment interaction effects on the development of immune responses in the 1st year of life.

American Journal Of Human Genetics
Hoffjan, Sabine S; Nicolae, Dan D; Ostrovnaya, Irina I; Roberg, Kathy K; Evans, Michael M; Mirel, Daniel B DB; Steiner, Lori L; Walker, Karen K; Shult, Peter P; Gangnon, Ronald E RE; Gern, James E JE; Martinez, Fernando D FD; Lemanske, Robert F RF; Ober, Carole C
Publication Date: 2005-04

Variant appearance in text: rs2234898
PubMed Link: 15726497
Variant Present in the following documents:
  • Main text
View BVdb publication page



No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes.

American Journal Of Human Genetics
Maier, Lisa M LM; Chapman, Juliet J; Howson, Joanna M M JM; Clayton, David G DG; Pask, Rebecca R; Strachan, David P DP; McArdle, Wendy L WL; Twells, Rebecca C J RC; Todd, John A JA
Publication Date: 2005-03

Variant appearance in text: rs2234898
PubMed Link: 15660293
Variant Present in the following documents:
  • Main text
View BVdb publication page