ATM c.*1604C>T

Variant ID: 11-108237839-C-T

NM_000051.3(ATM):c.*1604C>T

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Gene polymorphisms and prognosis of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology
Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H
Publication Date: 2022

Variant appearance in text: rs227091
PubMed Link: 36632296
Variant Present in the following documents:
  • rpor-27-6-1045.pdf
View BVdb publication page



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: rs227091
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs227091
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs227091
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs227091
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs227091
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Population and allelic variation of A-to-I RNA editing in human transcriptomes.

Genome Biology
Park, Eddie E; Guo, Jiguang J; Shen, Shihao S; Demirdjian, Levon L; Wu, Ying Nian YN; Lin, Lan L; Xing, Yi Y
Publication Date: 2017-07-28

Variant appearance in text: rs227091
PubMed Link: 28754146
Variant Present in the following documents:
  • Main text
  • 13059_2017_Article_1270.pdf
View BVdb publication page



Genetic variants in microRNA-binding sites of DNA repair genes as predictors of recurrence in patients with squamous cell carcinoma of the oropharynx.

International Journal Of Cancer
Zhu, Lijun L; Sturgis, Erich M EM; Zhang, Hua H; Lu, Zhongming Z; Tao, Ye Y; Wei, Qingyi Q; Li, Guojun G
Publication Date: 2017-10-01

Variant appearance in text: rs227091
PubMed Link: 28646528
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs227091
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Association between miRNA-binding site polymorphisms in double-strand break repair genes and risk of recurrence in patients with squamous cell carcinomas of the non-oropharynx.

Carcinogenesis
Zhu, Lijun L; Sturgis, Erich M EM; Lu, Zhongming Z; Zhang, Hua H; Wei, Peng P; Wei, Qingyi Q; Li, Guojun G
Publication Date: 2017-04-01

Variant appearance in text: rs227091
PubMed Link: 28334093
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma.

Plos One
Rendleman, Justin J; Antipin, Yevgeniy Y; Reva, Boris B; Adaniel, Christina C; Przybylo, Jennifer A JA; Dutra-Clarke, Ana A; Hansen, Nichole N; Heguy, Adriana A; Huberman, Kety K; Borsu, Laetitia L; Paltiel, Ora O; Ben-Yehuda, Dina D; Brown, Jennifer R JR; Freedman, Arnold S AS; Sander, Chris C; Zelenetz, Andrew A; Klein, Robert J RJ; Shao, Yongzhao Y; Lacher, Mortimer M; Vijai, Joseph J; Offit, Kenneth K; Kirchhoff, Tomas T
Publication Date: 2014

Variant appearance in text: rs227091
PubMed Link: 25010664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in microRNA target sites modulate risk of lymphoblastic and myeloid leukemias and affect microRNA binding.

Journal Of Hematology & Oncology
Dzikiewicz-Krawczyk, Agnieszka A; Macieja, Anna A; Mały, Ewa E; Januszkiewicz-Lewandowska, Danuta D; Mosor, Maria M; Fichna, Marta M; Strauss, Ewa E; Nowak, Jerzy J
Publication Date: 2014-06-02

Variant appearance in text: rs227091
PubMed Link: 24886876
Variant Present in the following documents:
  • Main text
  • 1756-8722-7-43.pdf
View BVdb publication page



Haploinsufficiency of Tumor Suppressor Genes is Driven by the Cumulative Effect of microRNAs, microRNA Binding Site Polymorphisms and microRNA Polymorphisms: An In silico Approach.

Cancer Informatics
Manikandan, Mayakannan M; Raksha, Ganesh G; Munirajan, Arasambattu Kannan AK
Publication Date: 2012

Variant appearance in text: rs227091
PubMed Link: 23032637
Variant Present in the following documents:
  • Main text
  • cin-11-2012-157.pdf
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Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One
George Priya Doss, C C; Rajith, B B
Publication Date: 2012

Variant appearance in text: rs227091
PubMed Link: 22529920
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of microRNA-binding site polymorphisms in DNA repair genes as risk factors for bladder cancer and breast cancer and their impact on radiotherapy outcomes.

Carcinogenesis
Teo, Mark T W MT; Landi, Debora D; Taylor, Claire F CF; Elliott, Faye F; Vaslin, Laurence L; Cox, David G DG; Hall, Janet J; Landi, Stefano S; Bishop, D Timothy DT; Kiltie, Anne E AE
Publication Date: 2012-03

Variant appearance in text: rs227091
PubMed Link: 22166496
Variant Present in the following documents:
  • Main text
  • bgr300.pdf
View BVdb publication page