ATM c.2614C>A ;(p.P872T)

Variant ID: 11-108138045-C-A

NM_000051.3(ATM):c.2614C>A;(p.P872T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: rs3218673
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Association between genetic variants in DNA and histone methylation and telomere length.

Plos One
Kim, Sangmi S; Parks, Christine G CG; Xu, Zongli Z; Carswell, Gleta G; DeRoo, Lisa A LA; Sandler, Dale P DP; Taylor, Jack A JA
Publication Date: 2012

Variant appearance in text: rs3218673
PubMed Link: 22792358
Variant Present in the following documents:
  • Main text
  • pone.0040504.pdf
View BVdb publication page



Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

Cancer Research
Concannon, Patrick P; Haile, Robert W RW; Børresen-Dale, Anne-Lise AL; Rosenstein, Barry S BS; Gatti, Richard A RA; Teraoka, Sharon N SN; Diep, T Anh TA; Jansen, Laila L; Atencio, David P DP; Langholz, Bryan B; Capanu, Marinela M; Liang, Xiaolin X; Begg, Colin B CB; Thomas, Duncan C DC; Bernstein, Leslie L; Olsen, Jørgen H JH; Malone, Kathleen E KE; Lynch, Charles F CF; Anton-Culver, Hoda H; Bernstein, Jonine L JL; ,
Publication Date: 2008-08-15

Variant appearance in text: rs3218673
PubMed Link: 18701470
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.

Breast Cancer Research : Bcr
Einarsdóttir, Kristjana K; Rosenberg, Lena U LU; Humphreys, Keith K; Bonnard, Carine C; Palmgren, Juni J; Li, Yuqing Y; Li, Yi Y; Chia, Kee S KS; Liu, Edison T ET; Hall, Per P; Liu, Jianjun J; Wedrén, Sara S
Publication Date: 2006

Variant appearance in text: rs3218673
PubMed Link: 17132159
Variant Present in the following documents:
View BVdb publication page