ADA c.220G>T ;(p.G74C)

Variant ID: 20-43255239-C-A

NM_000022.2(ADA):c.220G>T;(p.G74C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: G74c
PubMed Link: 31781678
Variant Present in the following documents:
  • JIR2019-5902391.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs121908730
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ADA: G74C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: G74C
PubMed Link: 20815357
Variant Present in the following documents:
  • Main text
View BVdb publication page