ATM c.5272G>A ;(p.D1758N)

Variant ID: 11-108172469-G-A

NM_000051.3(ATM):c.5272G>A;(p.D1758N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: ATM: 5272G>A; Asp1758Asn
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ATM: D1758N
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Next-Generation Sequencing-Based Assessment of JAK2, PD-L1, and PD-L2 Copy Number Alterations at 9p24.1 in Breast Cancer: Potential Implications for Clinical Management.

The Journal Of Molecular Diagnostics : Jmd
Gupta, Sounak S; Vanderbilt, Chad M CM; Cotzia, Paolo P; Arias-Stella, Javier A JA; Chang, Jason C JC; Zehir, Ahmet A; Benayed, Ryma R; Nafa, Khedouja K; Razavi, Pedram P; Hyman, David M DM; Baselga, José J; Berger, Michael F MF; Ladanyi, Marc M; Arcila, Maria E ME; Ross, Dara S DS
Publication Date: 2019-03

Variant appearance in text: ATM: 5272G>A; D1758N
PubMed Link: 30576871
Variant Present in the following documents:
  • Main text
View BVdb publication page