ATM c.444C>A ;(p.D148E)

Variant ID: 11-108106509-C-A

NM_000051.3(ATM):c.444C>A;(p.D148E)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ATM: D148E
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.

The Pharmacogenomics Journal
Uppugunduri, C R S CRS; Huezo-Diaz Curtis, P P; Nava, T T; Rezgui, M A MA; Mlakar, V V; Mlakar, S Jurkovic SJ; Waespe, N N; Théoret, Y Y; Gumy-Pause, F F; Bernard, F F; Chalandon, Y Y; Boelens, J J JJ; Bredius, R G M RGM; Dalle, J H JH; Nath, C C; Corbacioglu, S S; Peters, C C; Bader, P P; Shaw, P P; Bittencourt, H H; Krajinovic, M M; Ansari, M M
Publication Date: 2022-02

Variant appearance in text: ATM: D148E
PubMed Link: 34711928
Variant Present in the following documents:
  • 41397_2021_Article_251.pdf
View BVdb publication page



Genome instability in Alzheimer disease.

Mechanisms Of Ageing And Development
Hou, Yujun Y; Song, Hyundong H; Croteau, Deborah L DL; Akbari, Mansour M; Bohr, Vilhelm A VA
Publication Date: 2017-01

Variant appearance in text: ATM: Asp148Glu
PubMed Link: 27105872
Variant Present in the following documents:
  • Main text
View BVdb publication page



APE1 polymorphic variants cause persistent genomic stress and affect cancer cell proliferation.

Oncotarget
Lirussi, Lisa L; Antoniali, Giulia G; D'Ambrosio, Chiara C; Scaloni, Andrea A; Nilsen, Hilde H; Tell, Gianluca G
Publication Date: 2016-05-03

Variant appearance in text: ATM: D148E
PubMed Link: 27050370
Variant Present in the following documents:
  • oncotarget-07-26293.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: ATM: D148E
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



What's your poison? Impact of individual repair capacity on the outcomes of genotoxic therapies in cancer. Part II - information content and validity of biomarkers for individual repair capacity in the assessment of outcomes of anticancer therapy.

Biotechnology, Biotechnological Equipment
Petkova, Rumena R; Chelenkova, Pavlina P; Georgieva, Elena E; Chakarov, Stoian S
Publication Date: 2014-01-02

Variant appearance in text: ATM: Asp148Glu
PubMed Link: 26019482
Variant Present in the following documents:
  • Main text
  • tbeq-28-002.pdf
View BVdb publication page



Polymorphisms in base excision repair genes: Breast cancer risk and individual radiosensitivity.

World Journal Of Clinical Oncology
Patrono, Clarice C; Sterpone, Silvia S; Testa, Antonella A; Cozzi, Renata R
Publication Date: 2014-12-10

Variant appearance in text: ATM: Asp148Glu
PubMed Link: 25493225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oxidative genome damage and its repair in neurodegenerative diseases: function of transition metals as a double-edged sword.

Journal Of Alzheimer'S Disease : Jad
Hegde, Muralidhar L ML; Hegde, Pavana M PM; Rao, K S KS; Mitra, Sankar S
Publication Date: 2011

Variant appearance in text: ATM: Asp148Glu
PubMed Link: 21441656
Variant Present in the following documents:
  • Main text
View BVdb publication page



Base excision repair of oxidative DNA damage and association with cancer and aging.

Carcinogenesis
Maynard, Scott S; Schurman, Shepherd H SH; Harboe, Charlotte C; de Souza-Pinto, Nadja C NC; Bohr, Vilhelm A VA
Publication Date: 2009-01

Variant appearance in text: ATM: Asp148Glu
PubMed Link: 18978338
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

Carcinogenesis
Smith, Tasha R TR; Levine, Edward A EA; Freimanis, Rita I RI; Akman, Steven A SA; Allen, Glenn O GO; Hoang, Kimberly N KN; Liu-Mares, Wen W; Hu, Jennifer J JJ
Publication Date: 2008-11

Variant appearance in text: ATM: D148E
PubMed Link: 18701435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improved single-chain transactivators of the Tet-On gene expression system.

Bmc Biotechnology
Zhou, Xue X; Symons, Jori J; Hoppes, Rieuwert R; Krueger, Christel C; Berens, Christian C; Hillen, Wolfgang W; Berkhout, Ben B; Das, Atze T AT
Publication Date: 2007-01-19

Variant appearance in text: ATD: D148E
PubMed Link: 17239234
Variant Present in the following documents:
  • 1472-6750-7-6.pdf
View BVdb publication page



Modification of the Tet-On regulatory system prevents the conditional-live HIV-1 variant from losing doxycycline-control.

Retrovirology
Zhou, Xue X; Vink, Monique M; Berkhout, Ben B; Das, Atze T AT
Publication Date: 2006-11-09

Variant appearance in text: ATD: D148E
PubMed Link: 17094796
Variant Present in the following documents:
  • Main text
View BVdb publication page