IL2RA c.84G>A ;(p.P28=)

Variant ID: 10-6067969-C-T

NM_000417.2(IL2RA):c.84G>A;(p.P28=)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: IL2RA: P28P; rs2228150
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
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: IL2RA: P28P; rs2228150
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Host Single Nucleotide Polymorphisms Modulating Influenza A Virus Disease in Humans.

Pathogens (Basel, Switzerland)
Nogales, Aitor A; L DeDiego, Marta M
Publication Date: 2019-09-30

Variant appearance in text: rs2228150
PubMed Link: 31574965
Variant Present in the following documents:
  • Main text
  • pathogens-08-00168.pdf
View BVdb publication page



A population-based case-control study of genetic variation in cytokine genes associated with risk of cervical and vulvar cancers.

Gynecologic Oncology
Hardikar, Sheetal S; Johnson, Lisa G LG; Malkki, Mari M; Petersdorf, Effie W EW; Galloway, Denise A DA; Schwartz, Stephen M SM; Madeleine, Margaret M MM
Publication Date: 2015-10

Variant appearance in text: rs2228150
PubMed Link: 26241630
Variant Present in the following documents:
  • Main text
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: IL2RA: P28P; rs2228150
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25333361
Variant Present in the following documents:
View BVdb publication page



Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression.

Neurogenetics
Traboulsee, Anthony L AL; Bernales, Cecily Q CQ; Ross, Jay P JP; Lee, Joshua D JD; Sadovnick, A Dessa AD; Vilariño-Güell, Carles C
Publication Date: 2014-08

Variant appearance in text: IL2RA: P28P; rs2228150
PubMed Link: 24770783
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.

American Journal Of Human Genetics
Diogo, Dorothée D; Kurreeman, Fina F; Stahl, Eli A EA; Liao, Katherine P KP; Gupta, Namrata N; Greenberg, Jeffrey D JD; Rivas, Manuel A MA; Hickey, Brendan B; Flannick, Jason J; Thomson, Brian B; Guiducci, Candace C; Ripke, Stephan S; Adzhubey, Ivan I; Barton, Anne A; Kremer, Joel M JM; Alfredsson, Lars L; , ; , ; Sunyaev, Shamil S; Martin, Javier J; Zhernakova, Alexandra A; Bowes, John J; Eyre, Steve S; Siminovitch, Katherine A KA; Gregersen, Peter K PK; Worthington, Jane J; Klareskog, Lars L; Padyukov, Leonid L; Raychaudhuri, Soumya S; Plenge, Robert M RM
Publication Date: 2013-01-10

Variant appearance in text: rs2228150
PubMed Link: 23261300
Variant Present in the following documents:
  • Main text
View BVdb publication page



Immunogenetics of seasonal influenza vaccine response.

Vaccine
Poland, Gregory A GA; Ovsyannikova, Inna G IG; Jacobson, Robert M RM
Publication Date: 2008-09-12

Variant appearance in text: rs2228150
PubMed Link: 19230157
Variant Present in the following documents:
  • Main text
View BVdb publication page