ATM c.2057T>A ;(p.L686H)

Variant ID: 11-108124699-T-A

NM_000051.3(ATM):c.2057T>A;(p.L686H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Frontiers In Oncology
Andrikopoulou, Angeliki A; Chatzinikolaou, Spyridoula S; Kyriopoulos, Ilias I; Bletsa, Garyfalia G; Kaparelou, Maria M; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2021

Variant appearance in text: ATM: 2057T>A; Leu686His; rs1239416977
PubMed Link: 35127508
Variant Present in the following documents:
  • Main text
  • fonc-11-797505.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: 2057T>A; L686H
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page