ADA c.424C>T ;(p.R142*)

Variant ID: 20-43254264-G-A

NM_000022.2(ADA):c.424C>T;(p.R142*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ADA: 424C>T; Arg142Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Identification of a Genetic Susceptibility Locus for Idiopathic Pulmonary Fibrosis in the 16p Subtelomere Using Whole Genome Sequencing.

American Journal Of Respiratory And Critical Care Medicine
Donoghue, Lauren J LJ; Stockwell, Amy D AD; Neighbors, Margaret M; Sheng, Rebecca X RX; Prabhakaran, Ramanandan R; Wolters, Paul J PJ; Lancaster, Lisa H LH; Kropski, Jonathan A JA; Blackwell, Timothy S TS; McCarthy, Mark I MI; Yaspan, Brian L BL
Publication Date: 2023-01-05

Variant appearance in text: rs780014431
PubMed Link: 36603154
Variant Present in the following documents:
  • Main text
  • rccm.202206-1139LE.pdf
View BVdb publication page



A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine
Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y
Publication Date: 2022-06

Variant appearance in text: ADA: R142*
PubMed Link: 35665479
Variant Present in the following documents:
  • Main text
  • CTM2-12-e843-s002.xlsx, sheet 6
  • CTM2-12-e843.pdf
  • CTM2-12-e843-s002.xlsx, sheet 7
  • CTM2-12-e843-s002.xlsx, sheet 10
View BVdb publication page



Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Journal Of Clinical Immunology
Pajno, Roberta R; Pacillo, Lucia L; Recupero, Salvatore S; Cicalese, Maria P MP; Ferrua, Francesca F; Barzaghi, Federica F; Ricci, Silvia S; Marzollo, Antonio A; Pecorelli, Silvia S; Azzari, Chiara C; Finocchi, Andrea A; Cancrini, Caterina C; Di Matteo, Gigliola G; Russo, Gianni G; Alfano, Massimo M; Lesma, Arianna A; Salonia, Andrea A; Adams, Stuart S; Booth, Claire C; Aiuti, Alessandro A
Publication Date: 2020-05

Variant appearance in text: ADA: R142X
PubMed Link: 32307643
Variant Present in the following documents:
  • Main text
  • 10875_2020_Article_777.pdf
View BVdb publication page



Patient-derived lung cancer organoids as in vitro cancer models for therapeutic screening.

Nature Communications
Kim, Minsuh M; Mun, Hyemin H; Sung, Chang Oak CO; Cho, Eun Jeong EJ; Jeon, Hye-Joon HJ; Chun, Sung-Min SM; Jung, Da Jung DJ; Shin, Tae Hoon TH; Jeong, Gi Seok GS; Kim, Dong Kwan DK; Choi, Eun Kyung EK; Jeong, Seong-Yun SY; Taylor, Alison M AM; Jain, Sejal S; Meyerson, Matthew M; Jang, Se Jin SJ
Publication Date: 2019-09-05

Variant appearance in text: ADA: 424C>T; R142*; rs780014431
PubMed Link: 31488816
Variant Present in the following documents:
  • 41467_2019_11867_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

Blood
Candotti, Fabio F; Shaw, Kit L KL; Muul, Linda L; Carbonaro, Denise D; Sokolic, Robert R; Choi, Christopher C; Schurman, Shepherd H SH; Garabedian, Elizabeth E; Kesserwan, Chimene C; Jagadeesh, G Jayashree GJ; Fu, Pei-Yu PY; Gschweng, Eric E; Cooper, Aaron A; Tisdale, John F JF; Weinberg, Kenneth I KI; Crooks, Gay M GM; Kapoor, Neena N; Shah, Ami A; Abdel-Azim, Hisham H; Yu, Xiao-Jin XJ; Smogorzewska, Monika M; Wayne, Alan S AS; Rosenblatt, Howard M HM; Davis, Carla M CM; Hanson, Celine C; Rishi, Radha G RG; Wang, Xiaoyan X; Gjertson, David D; Yang, Otto O OO; Balamurugan, Arumugam A; Bauer, Gerhard G; Ireland, Joanna A JA; Engel, Barbara C BC; Podsakoff, Gregory M GM; Hershfield, Michael S MS; Blaese, R Michael RM; Parkman, Robertson R; Kohn, Donald B DB
Publication Date: 2012-11-01

Variant appearance in text: ADA: 424C>T
PubMed Link: 22968453
Variant Present in the following documents:
  • Main text
View BVdb publication page