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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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