IL7R c.801-21A>T

Variant ID: 5-35875593-A-T

NM_002185.3(IL7R):c.801-21A>T

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs987106
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs987106
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs987106
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



<i>IL7RA</i> single nucleotide polymorphisms are associated with the size and function of the MAIT cell population in treated HIV-1 infection.

Frontiers In Immunology
Han, Fei F; Gulam, Muhammad Yaaseen MY; Zheng, Yichao Y; Zulhaimi, Nurul Syuhada NS; Sia, Wan Rong WR; He, Dan D; Ho, Amanda A; Hadadi, Leila L; Liu, Zhenyu Z; Qin, Peiwu P; Lobie, Peter E PE; Kamarulzaman, Adeeba A; Wang, Lin-Fa LF; Sandberg, Johan K JK; Lewin, Sharon R SR; Rajasuriar, Reena R; Leeansyah, Edwin E
Publication Date: 2022

Variant appearance in text: rs987106
PubMed Link: 36341446
Variant Present in the following documents:
  • Main text
  • fimmu-13-985385.pdf
View BVdb publication page



IL-7/IL7R axis dysfunction in adults with severe community-acquired pneumonia (CAP): a cross-sectional study.

Scientific Reports
Ampuero, Sandra S; Bahamonde, Guillermo G; Tempio, Fabián F; Garmendia, María Luisa ML; Ruiz, Mauricio M; Pizarro, Rolando R; Rossi, Patricio P; Huenchur, Lucía L; Lizama, Luis L; López, Mercedes M; Avendaño, Luis F LF; Luchsinger, Vivian V
Publication Date: 2022-07-30

Variant appearance in text: IL7R: 801-21A>T; rs987106
PubMed Link: 35907923
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_13063.pdf
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: IL7R: 801-21A>T; rs987106
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_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: rs987106
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs987106
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs987106
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Association of Multiple Sclerosis Phenotypes with Single Nucleotide Polymorphisms of IL7R, LAG3, and CD40 Genes in a Jordanian Population: A Genotype-Phenotype Study.

Biomolecules
Al-Eitan, Laith L; Qudah, Malak Al MA; Qawasmeh, Majdi Al MA
Publication Date: 2020-02-26

Variant appearance in text: rs987106
PubMed Link: 32111053
Variant Present in the following documents:
  • Main text
  • biomolecules-10-00356.pdf
View BVdb publication page



IL-7/IL-7R gene variants impact circulating IL-7/IL-7R homeostasis and ART-associated immune recovery status.

Scientific Reports
Ceausu, Andra A; Rodríguez-Gallego, Esther E; Peraire, Joaquim J; López-Dupla, Miguel M; Domingo, Pere P; Viladés, Consuelo C; Vidal-Gonzalez, Judit J; Peraire, Maria M; Perpiñán, Carles C; Pacheco, Yolanda María YM; Veloso, Sergi S; Alba, Verónica V; Vargas, Montserrat M; Castellano, Alfonso J AJ; Ruiz-Mateos, Ezequiel E; Mallolas, Josep J; Vidal, Francesc F; Rull, Anna A
Publication Date: 2019-10-31

Variant appearance in text: rs987106
PubMed Link: 31673011
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_52025.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: rs987106
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs987106
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Antiretroviral therapy immunologic non-response in a Brazilian population: association study using pharmaco- and immunogenetic markers.

The Brazilian Journal Of Infectious Diseases : An Official Publication Of The Brazilian Society Of Infectious Diseases
Coelho, Antonio V C AVC; Moura, Ronald R de RR; Guimarães, Rafael L RL; Brandão, Lucas A C LAC; Crovella, Sergio S
Publication Date: 2018

Variant appearance in text: rs987106
PubMed Link: 30392849
Variant Present in the following documents:
  • Main text
  • main.pdf
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: IL7R: 801-21A>T; rs987106
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: rs987106
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_17.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs987106
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 3
View BVdb publication page



The IL7RA rs6897932 polymorphism is associated with progression of liver fibrosis in patients with chronic hepatitis C: Repeated measurements design.

Plos One
Jiménez-Sousa, María Ángeles MÁ; Gómez-Moreno, Ana Zaida AZ; Pineda-Tenor, Daniel D; Medrano, Luz Maria LM; Sánchez-Ruano, Juan José JJ; Fernández-Rodríguez, Amanda A; Artaza-Varasa, Tomas T; Saura-Montalbán, José J; Vázquez-Morón, Sonia S; Ryan, Pablo P; Resino, Salvador S
Publication Date: 2018

Variant appearance in text: rs987106
PubMed Link: 29742149
Variant Present in the following documents:
  • Main text
  • pone.0197115.pdf
View BVdb publication page



The role of regulatory T cells and genes involved in their differentiation in pathogenesis of selected inflammatory and neoplastic skin diseases. Part III: Polymorphisms of genes involved in Tregs' activation and function.

Postepy Dermatologii I Alergologii
Nedoszytko, Bogusław B; Sokołowska-Wojdyło, Małgorzata M; Renke, Joanna J; Lange, Magdalena M; Trzonkowski, Piotr P; Sobjanek, Michał M; Szczerkowska-Dobosz, Aneta A; Niedoszytko, Marek M; Górska, Aleksandra A; Romantowski, Jan J; Skokowski, Jarosław J; Kalinowski, Leszek L; Nowicki, Roman J RJ
Publication Date: 2017-12

Variant appearance in text: rs987106
PubMed Link: 29422815
Variant Present in the following documents:
  • Main text
  • PDIA-34-29781.pdf
View BVdb publication page



Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget
Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X
Publication Date: 2017-04-04

Variant appearance in text: rs987106
PubMed Link: 28009986
Variant Present in the following documents:
  • oncotarget-08-22741-s003.xlsx, sheet 1
View BVdb publication page



Psoriasis risk SNPs and their association with HIV-1 control.

Human Immunology
Nititham, Joanne J; Gupta, Rashmi R; Zeng, Xue X; Hartogensis, Wendy W; Nixon, Douglas F DF; Deeks, Steven G SG; Hecht, Frederick M FM; Liao, Wilson W
Publication Date: 2017-02

Variant appearance in text: rs987106
PubMed Link: 27810495
Variant Present in the following documents:
  • Main text
View BVdb publication page



P2X7 Receptor Inhibition Improves CD34 T-Cell Differentiation in HIV-Infected Immunological Nonresponders on c-ART.

Plos Pathogens
Menkova-Garnier, Inna I; Hocini, Hakim H; Foucat, Emile E; Tisserand, Pascaline P; Bourdery, Laure L; Delaugerre, Constance C; Benne, Clarisse C; Lévy, Yves Y; Lelièvre, Jean-Daniel JD
Publication Date: 2016-04

Variant appearance in text: rs987106
PubMed Link: 27082982
Variant Present in the following documents:
  • Main text
  • ppat.1005571.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs987106
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Association between IL7R polymorphisms and severe liver disease in HIV/HCV coinfected patients: a cross-sectional study.

Journal Of Translational Medicine
Guzmán-Fulgencio, María M; Berenguer, Juan J; Jiménez-Sousa, María A MA; Pineda-Tenor, Daniel D; Aldámiz-Echevarria, Teresa T; García-Broncano, Pilar P; Carrero, Ana A; García-Álvarez, Mónica M; Tejerina, Francisco F; Diez, Cristina C; Vazquez-Morón, Sonia S; Resino, Salvador S
Publication Date: 2015-06-30

Variant appearance in text: rs987106
PubMed Link: 26123260
Variant Present in the following documents:
  • Main text
  • 12967_2015_Article_577.pdf
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: rs987106
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15

Variant appearance in text: rs987106
PubMed Link: 25347344
Variant Present in the following documents:
  • oncotarget-05-10596-s002.xlsx, sheet 4
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: rs987106
PubMed Link: 21875636
Variant Present in the following documents:
  • Main text
View BVdb publication page