ADA c.212C>T ;(p.A71V)

Variant ID: 20-43257694-G-A

NM_000022.2(ADA):c.212C>T;(p.A71V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ADA: A71V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Journal Of Immunology Research
Essadssi, Soukaina S; Krami, Al Mehdi AM; Elkhattabi, Lamiae L; Elkarhat, Zouhair Z; Amalou, Ghita G; Abdelghaffar, Houria H; Rouba, Hassan H; Barakat, Abdelhamid A
Publication Date: 2019

Variant appearance in text: ADA: A71V; rs762213530
PubMed Link: 31781678
Variant Present in the following documents:
  • 5902391.f1.pdf
View BVdb publication page



Inhibition of human immunodeficiency virus type 1 by triciribine involves the accessory protein nef.

Antimicrobial Agents And Chemotherapy
Ptak, Roger G RG; Gentry, Brian G BG; Hartman, Tracy L TL; Watson, Karen M KM; Osterling, M Clayton MC; Buckheit, Robert W RW; Townsend, Leroy B LB; Drach, John C JC
Publication Date: 2010-04

Variant appearance in text: ADA: A71V
PubMed Link: 20086149
Variant Present in the following documents:
  • Main text
View BVdb publication page



4'-Ethynyl nucleoside analogs: potent inhibitors of multidrug-resistant human immunodeficiency virus variants in vitro.

Antimicrobial Agents And Chemotherapy
Kodama, E I EI; Kohgo, S S; Kitano, K K; Machida, H H; Gatanaga, H H; Shigeta, S S; Matsuoka, M M; Ohrui, H H; Mitsuya, H H
Publication Date: 2001-05

Variant appearance in text: ADA: A71V
PubMed Link: 11302824
Variant Present in the following documents:
  • Main text
View BVdb publication page