ATM c.6325T>G ;(p.W2109G)

Variant ID: 11-108188226-T-G

NM_000051.3(ATM):c.6325T>G;(p.W2109G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Frontiers In Immunology
Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H
Publication Date: 2021

Variant appearance in text: ATM: 6325T>G; Trp2109Gly
PubMed Link: 35095854
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 6325T>G; W2109G
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

Human Mutation
Mitui, M M; Nahas, S A SA; Du, L T LT; Yang, Z Z; Lai, C H CH; Nakamura, K K; Arroyo, S S; Scott, S S; Purayidom, A A; Concannon, P P; Lavin, M M; Gatti, R A RA
Publication Date: 2009-01

Variant appearance in text: ATM: 6325T>G; W2109G
PubMed Link: 18634022
Variant Present in the following documents:
  • Main text
View BVdb publication page