IL4R c.*6T>C

Variant ID: 16-27375157-T-C

NM_000418.3(IL4R):c.*6T>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: rs2074570
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs2074570
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.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: rs2074570
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Investigating highly replicated asthma genes as candidate genes for allergic rhinitis.

Bmc Medical Genetics
Andiappan, Anand Kumar AK; Nilsson, Daniel D; Halldén, Christer C; Yun, Wang De WD; Säll, Torbjörn T; Cardell, Lars Olaf LO; Tim, Chew Fook CF
Publication Date: 2013-05-10

Variant appearance in text: rs2074570
PubMed Link: 23663310
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-51.pdf
View BVdb publication page



Associations between single nucleotide polymorphisms and haplotypes in cytokine and cytokine receptor genes and immunity to measles vaccination.

Vaccine
Haralambieva, Iana H IH; Ovsyannikova, Inna G IG; Kennedy, Richard B RB; Vierkant, Robert A RA; Pankratz, V Shane VS; Jacobson, Robert M RM; Poland, Gregory A GA
Publication Date: 2011-10-19

Variant appearance in text: rs2074570
PubMed Link: 21875636
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: rs2074570
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: rs2074570
PubMed Link: 19956098
Variant Present in the following documents:
  • Main text
View BVdb publication page



A polymorphism within IL21R confers risk for systemic lupus erythematosus.

Arthritis And Rheumatism
Webb, Ryan R; Merrill, Joan T JT; Kelly, Jennifer A JA; Sestak, Andrea A; Kaufman, Kenneth M KM; Langefeld, Carl D CD; Ziegler, Julie J; Kimberly, Robert P RP; Edberg, Jeffrey C JC; Ramsey-Goldman, Rosalind R; Petri, Michelle M; Reveille, John D JD; Alarcón, Graciela S GS; Vilá, Luis M LM; Alarcón-Riquelme, Marta E ME; James, Judith A JA; Gilkeson, Gary S GS; Jacob, Chaim O CO; Moser, Kathy L KL; Gaffney, Patrick M PM; Vyse, Timothy J TJ; Nath, Swapan K SK; Lipsky, Peter P; Harley, John B JB; Sawalha, Amr H AH
Publication Date: 2009-08

Variant appearance in text: rs2074570
PubMed Link: 19644854
Variant Present in the following documents:
  • Main text
View BVdb publication page