ATM c.3993+197G>A

Variant ID: 11-108155397-G-A

NM_000051.3(ATM):c.3993+197G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs654005
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: ATM: 3993+197G>A; rs654005
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ATM: 3993+197G>A; rs654005
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.

Nature Genetics
, ; , ; Zhou, Kaixin K; Bellenguez, Celine C; Spencer, Chris C A CC; Bennett, Amanda J AJ; Coleman, Ruth L RL; Tavendale, Roger R; Hawley, Simon A SA; Donnelly, Louise A LA; Schofield, Chris C; Groves, Christopher J CJ; Burch, Lindsay L; Carr, Fiona F; Strange, Amy A; Freeman, Colin C; Blackwell, Jenefer M JM; Bramon, Elvira E; Brown, Matthew A MA; Casas, Juan P JP; Corvin, Aiden A; Craddock, Nicholas N; Deloukas, Panos P; Dronov, Serge S; Duncanson, Audrey A; Edkins, Sarah S; Gray, Emma E; Hunt, Sarah S; Jankowski, Janusz J; Langford, Cordelia C; Markus, Hugh S HS; Mathew, Christopher G CG; Plomin, Robert R; Rautanen, Anna A; Sawcer, Stephen J SJ; Samani, Nilesh J NJ; Trembath, Richard R; Viswanathan, Ananth C AC; Wood, Nicholas W NW; , ; Harries, Lorna W LW; Hattersley, Andrew T AT; Doney, Alex S F AS; Colhoun, Helen H; Morris, Andrew D AD; Sutherland, Calum C; Hardie, D Grahame DG; Peltonen, Leena L; McCarthy, Mark I MI; Holman, Rury R RR; Palmer, Colin N A CN; Donnelly, Peter P; Pearson, Ewan R ER
Publication Date: 2011-02

Variant appearance in text: rs654005
PubMed Link: 21186350
Variant Present in the following documents:
  • NIHMS33681-supplement-1.pdf
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: rs654005
PubMed Link: 17132159
Variant Present in the following documents:
View BVdb publication page