ALK c.472C>A ;(p.P158T)

Variant ID: 2-30143054-G-T

NM_004304.4(ALK):c.472C>A;(p.P158T)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ
Publication Date: 2022-12-06

Variant appearance in text: ALK: 472C>A; P158T
PubMed Link: 36442087
Variant Present in the following documents:
  • pnas.2211429119.sd02.xlsx, sheet 1
View BVdb publication page



Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.

Jbmr Plus
Zhou, Wei W; Nguyen, Hanh H HH; van de Laarschot, Denise M DM; Howe, Tet Sen TS; Koh, Joyce S B JSB; Milat, Frances F; van Rooij, Jeroen G J JGJ; Verlouw, Joost A M JAM; van der Eerden, Bram C J BCJ; Stevenson, Mark M; Thakker, Rajesh V RV; Zillikens, M Carola MC; Ebeling, Peter R PR
Publication Date: 2022-08

Variant appearance in text: ALK: P158T; rs536284304
PubMed Link: 35991532
Variant Present in the following documents:
  • JBM4-6-e10659-s002.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Italian Journal Of Pediatrics
Wu, Shao-Wen SW; Li, Lin L; Feng, Fan F; Wang, Li L; Kong, Yuan-Yuan YY; Liu, Xiao-Wei XW; Yin, Chenghong C
Publication Date: 2021-07-21

Variant appearance in text: ALK: 472C>A; P158T; rs536284304
PubMed Link: 34289880
Variant Present in the following documents:
  • 13052_2021_1112_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: ALK: 472C>A; P158T
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications
Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S
Publication Date: 2020-08-24

Variant appearance in text: ALK: 472C>A; Pro158Thr
PubMed Link: 32839463
Variant Present in the following documents:
  • 41467_2020_17880_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Scientific Reports
Lee, Seung Eun SE; Lee, Hye Seung HS; Kim, Kyoung-Yeon KY; Park, Jung-Hoon JH; Roh, Hanseong H; Park, Ha Young HY; Kim, Wan-Seop WS
Publication Date: 2019-07-29

Variant appearance in text: ALK: P158T
PubMed Link: 31358837
Variant Present in the following documents:
  • 41598_2019_47439_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: ALK: 472C>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



ARID1B alterations identify aggressive tumors in neuroblastoma.

Oncotarget
Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW
Publication Date: 2017-07-11

Variant appearance in text: ALK: P158T
PubMed Link: 28521285
Variant Present in the following documents:
  • oncotarget-08-45943-s002.xlsx, sheet 2
View BVdb publication page



Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus.

Oncotarget
Lim, Sun Min SM; Park, Hyung Soon HS; Kim, Sangwoo S; Kim, Sora S; Ali, Siraj M SM; Greenbowe, Joel R JR; Yang, In Seok IS; Kwon, Nak-Jung NJ; Lee, Jae Lyun JL; Ryu, Min-Hee MH; Ahn, Jin-Hee JH; Lee, Jeeyun J; Lee, Min Goo MG; Kim, Hyo Song HS; Kim, Hyunki H; Kim, Hye Ryun HR; Moon, Yong Wha YW; Chung, Hyun Cheol HC; Kim, Joo-Hang JH; Kang, Yoon-Koo YK; Cho, Byoung Chul BC
Publication Date: 2016-03-01

Variant appearance in text: ALK: P158T
PubMed Link: 26859683
Variant Present in the following documents:
  • oncotarget-07-10547-s002.pdf
View BVdb publication page