ADA c.263A>C ;(p.E88A)

Variant ID: 20-43255196-T-G

NM_000022.2(ADA):c.263A>C;(p.E88A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The fluoride permeation pathway and anion recognition in Fluc family fluoride channels.

Elife
McIlwain, Benjamin C BC; Gundepudi, Roja R; Koff, B Ben BB; Stockbridge, Randy B RB
Publication Date: 2021-07-12

Variant appearance in text: ADA: E88A
PubMed Link: 34250906
Variant Present in the following documents:
  • Main text
  • elife-69482.pdf
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: E88A; rs1344927471
PubMed Link: 31781678
Variant Present in the following documents:
  • 5902391.f1.pdf
View BVdb publication page