ATM c.2146G>A ;(p.V716I)

Variant ID: 11-108126963-G-A

NM_000051.3(ATM):c.2146G>A;(p.V716I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Dynamic changes in gene alterations during chemotherapy in metastatic castrate resistant prostate cancer.

Scientific Reports
Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Roacho, Joanna J; Thao, Seng S; Du, Pan P; Jia, Shidong S; Yu, Jianjun J; King, Bonnie L BL; Kohli, Manish M
Publication Date: 2022-03-18

Variant appearance in text: ATM: 2146G>A; Val716Met
PubMed Link: 35304525
Variant Present in the following documents:
  • 41598_2022_8520_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10

Variant appearance in text: ATM: 2146G>A; Val716Met
PubMed Link: 32039725
Variant Present in the following documents:
  • 12920_2019_Article_652.pdf
View BVdb publication page



Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin
Xu, Xing-Xing XX; Luo, Jian-Hong JH
Publication Date: 2018-06

Variant appearance in text: ATD: 2146G>A
PubMed Link: 29124671
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Publication Date: 2015-09-24

Variant appearance in text: ATM: V716I
PubMed Link: 26388441
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page