ALK c.536G>A ;(p.R179H)

Variant ID: 2-30142990-C-T

NM_004304.4(ALK):c.536G>A;(p.R179H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ALK: 536G>A; R179H
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Gut
Li, Jingyun J; Wang, Rui R; Zhou, Xin X; Wang, Wendong W; Gao, Shuai S; Mao, Yunuo Y; Wu, Xinglong X; Guo, Limei L; Liu, Haijing H; Wen, Lu L; Fu, Wei W; Tang, Fuchou F
Publication Date: 2020-07

Variant appearance in text: ALK: Arg179His
PubMed Link: 31744909
Variant Present in the following documents:
  • gutjnl-2019-319438supp006.xlsx, sheet 2
  • gutjnl-2019-319438supp006.xlsx, sheet 1
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: ALK: 536G>A; R179H
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Landscape of genome-wide age-related DNA methylation in breast tissue.

Oncotarget
Song, Min-Ae MA; Brasky, Theodore M TM; Weng, Daniel Y DY; McElroy, Joseph P JP; Marian, Catalin C; Higgins, Michael J MJ; Ambrosone, Christine C; Spear, Scott L SL; Llanos, Adana A AA; Kallakury, Bhaskar V S BVS; Freudenheim, Jo L JL; Shields, Peter G PG
Publication Date: 2017-12-29

Variant appearance in text: ALK: 536G>A
PubMed Link: 29383109
Variant Present in the following documents:
  • oncotarget-08-114648-s001.pdf
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: ALK: R179H
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page