ADA c.221G>A ;(p.G74D)

Variant ID: 20-43255238-C-T

NM_000022.2(ADA):c.221G>A;(p.G74D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.

Medicine
Chi, Zuo Hua ZH; Wei, Wei W; Bu, Ding Fang DF; Li, Huan Huan HH; Ding, Fei F; Zhu, Ping P
Publication Date: 2018-10

Variant appearance in text: ADA: 221G>A; G74D
PubMed Link: 30290665
Variant Present in the following documents:
  • Main text
  • medi-97-e12695.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ADA: 221G>A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



The role of Zn2+ on the structure and stability of murine adenosine deaminase.

The Journal Of Physical Chemistry. B
Niu, Weiling W; Shu, Qin Q; Chen, Zhiwei Z; Mathews, Scott S; Di Cera, Enrico E; Frieden, Carl C
Publication Date: 2010-12-16

Variant appearance in text: ADA: G74D
PubMed Link: 20815357
Variant Present in the following documents:
  • Main text
View BVdb publication page