ALK c.3692G>A ;(p.R1231Q)

Variant ID: 2-29436901-C-T

NM_004304.4(ALK):c.3692G>A;(p.R1231Q)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

The Journal Of Pathology. Clinical Research
Schraml, Peter P; Aimi, Fabio F; Zoche, Martin M; Aguilera-Garcia, Domingo D; Arnold, Fabian F; Moch, Holger H; Hottiger, Michael O MO
Publication Date: 2023-03-31

Variant appearance in text: ALK: R1231Q
PubMed Link: 36999983
Variant Present in the following documents:
  • CJP2-9-273-s001.xlsx, sheet 20
View BVdb publication page



Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology
Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y
Publication Date: 2022

Variant appearance in text: ALK: R1231Q
PubMed Link: 35966080
Variant Present in the following documents:
  • Main text
  • fendo-13-921645.pdf
  • Table_1.xlsx, sheet 5
View BVdb publication page



Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.

International Journal Of Oncology
Nian, Rui R; Jiang, Huihui H; Zhao, Jiangman J; Hou, Wanle W; Zhang, Hua H; Ma, Jiangtao J; Lv, Pengbiao P; Jiang, Lisha L; Wang, Yongpan Y; Xu, Yue Y; Wu, Shouxin S; Lou, Jingwei J; Li, Wanjun W
Publication Date: 2022-09

Variant appearance in text: ALK: R1231Q; rs200110351
PubMed Link: 35796015
Variant Present in the following documents:
  • Supplementary_Data6.xlsx, sheet 1
View BVdb publication page



Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics
Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y
Publication Date: 2022-01-15

Variant appearance in text: ALK: 3692G>A; Arg1231Gln
PubMed Link: 35031014
Variant Present in the following documents:
  • 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics
Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y
Publication Date: 2022-01-15

Variant appearance in text: ALK: 3692G>A; Arg1231Gln
PubMed Link: 35031014
Variant Present in the following documents:
  • 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: ALK: 3692G>A; Arg1231Gln; rs200110351
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Computational studies of anaplastic lymphoma kinase mutations reveal common mechanisms of oncogenic activation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Patil, Keshav K; Jordan, Earl Joseph EJ; Park, Jin H JH; Suresh, Krishna K; Smith, Courtney M CM; Lemmon, Abigail A AA; Mossé, Yaël P YP; Lemmon, Mark A MA; Radhakrishnan, Ravi R
Publication Date: 2021-03-09

Variant appearance in text: ALK: R1231Q
PubMed Link: 33674381
Variant Present in the following documents:
  • Main text
  • pnas.202019132.pdf
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs200110351
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ALK: R1231Q
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: ALK: R1231Q
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Deep sequencing of circulating tumor DNA detects molecular residual disease and predicts recurrence in gastric cancer.

Cell Death & Disease
Yang, Jian J; Gong, Yuhua Y; Lam, Vincent K VK; Shi, Yan Y; Guan, Yanfang Y; Zhang, Yanyan Y; Ji, Liyan L; Chen, Yongsheng Y; Zhao, Yongliang Y; Qian, Feng F; Chen, Jun J; Li, Pingang P; Zhang, Fan F; Wang, Jiayin J; Zhang, Xuanping X; Yang, Ling L; Kopetz, Scott S; Futreal, P Andrew PA; Zhang, Jianjun J; Yi, Xin X; Xia, Xuefeng X; Yu, Peiwu P
Publication Date: 2020-05-11

Variant appearance in text: ALK: 3692G>A; R1231Q
PubMed Link: 32393783
Variant Present in the following documents:
  • 41419_2020_2531_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Computational algorithms for in silico profiling of activating mutations in cancer.

Cellular And Molecular Life Sciences : Cmls
Jordan, E Joseph EJ; Patil, Keshav K; Suresh, Krishna K; Park, Jin H JH; Mosse, Yael P YP; Lemmon, Mark A MA; Radhakrishnan, Ravi R
Publication Date: 2019-07

Variant appearance in text: ALK: R1231Q
PubMed Link: 30982079
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure and energy based quantitative missense variant effect analysis provides insights into drug resistance mechanisms of anaplastic lymphoma kinase mutations.

Scientific Reports
Li, Jianzong J; Huang, Yue Y; Wu, Miaomiao M; Wu, Chuanfang C; Li, Xin X; Bao, Jinku J
Publication Date: 2018-07-13

Variant appearance in text: ALK: R1231Q
PubMed Link: 30006516
Variant Present in the following documents:
  • 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic susceptibility to neuroblastoma: current knowledge and future directions.

Cell And Tissue Research
Ritenour, Laura E LE; Randall, Michael P MP; Bosse, Kristopher R KR; Diskin, Sharon J SJ
Publication Date: 2018-05

Variant appearance in text: ALK: R1231Q
PubMed Link: 29589100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One
He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM
Publication Date: 2016

Variant appearance in text: ALK: R1231Q; rs200110351
PubMed Link: 27930734
Variant Present in the following documents:
  • pone.0167847.s002.xls, sheet 1
View BVdb publication page



Anaplastic Lymphoma Kinase as a Cancer Target in Pediatric Malignancies.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Mossé, Yael P YP
Publication Date: 2016-02-01

Variant appearance in text: ALK: R1231Q
PubMed Link: 26503946
Variant Present in the following documents:
  • Main text
View BVdb publication page



ALK kinase domain mutations in primary anaplastic large cell lymphoma: consequences on NPM-ALK activity and sensitivity to tyrosine kinase inhibitors.

Plos One
Lovisa, Federica F; Cozza, Giorgio G; Cristiani, Andrea A; Cuzzolin, Alberto A; Albiero, Alessandro A; Mussolin, Lara L; Pillon, Marta M; Moro, Stefano S; Basso, Giuseppe G; Rosolen, Angelo A; Bonvini, Paolo P
Publication Date: 2015

Variant appearance in text: ALK: R1231Q
PubMed Link: 25874976
Variant Present in the following documents:
  • Main text
  • pone.0121378.pdf
View BVdb publication page



ALK mutations confer differential oncogenic activation and sensitivity to ALK inhibition therapy in neuroblastoma.

Cancer Cell
Bresler, Scott C SC; Weiser, Daniel A DA; Huwe, Peter J PJ; Park, Jin H JH; Krytska, Kateryna K; Ryles, Hannah H; Laudenslager, Marci M; Rappaport, Eric F EF; Wood, Andrew C AC; McGrady, Patrick W PW; Hogarty, Michael D MD; London, Wendy B WB; Radhakrishnan, Ravi R; Lemmon, Mark A MA; Mossé, Yaël P YP
Publication Date: 2014-11-10

Variant appearance in text: ALK: R1231Q
PubMed Link: 25517749
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrating in silico prediction methods, molecular docking, and molecular dynamics simulation to predict the impact of ALK missense mutations in structural perspective.

Biomed Research International
Doss, C George Priya CG; Chakraborty, Chiranjib C; Chen, Luonan L; Zhu, Hailong H
Publication Date: 2014

Variant appearance in text: ALK: R1231Q; rs200110351
PubMed Link: 25054154
Variant Present in the following documents:
View BVdb publication page