ALK c.235G>A ;(p.E79K)

Variant ID: 2-30143291-C-T

NM_004304.4(ALK):c.235G>A;(p.E79K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ALK: E79K; rs777351909
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Clinical application of comprehensive genomic profiling panel to thoracic malignancies: A single-center retrospective study.

Thoracic Cancer
Kunimasa, Kei K; Sugimoto, Naotoshi N; Kawamura, Takahisa T; Yamasaki, Tomoyuki T; Honma, Keiichiro K; Nagata, Shigenori S; Kukita, Yoji Y; Fujisawa, Fumie F; Inoue, Tazuko T; Yamaguchi, Yuko Y; Kitasaka, Mitsuko M; Wakamatsu, Toru T; Yamai, Takuo T; Yamamoto, Sachiko S; Hayashi, Takuji T; Inoue, Takako T; Tamiya, Motohiro M; Imamura, Fumio F; Nishimura, Kazuo K; Nishino, Kazumi K
Publication Date: 2022-11

Variant appearance in text: ALK: E79K
PubMed Link: 36100256
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deciphering Haplotypic Variation and Gene Expression Dynamics Associated with Nutritional and Cooking Quality in Rice.

Cells
Rana, Nitika N; Kumawat, Surbhi S; Kumar, Virender V; Bansal, Ruchi R; Mandlik, Rushil R; Dhiman, Pallavi P; Patil, Gunvant B GB; Deshmukh, Rupesh R; Sharma, Tilak Raj TR; Sonah, Humira H
Publication Date: 2022-03-28

Variant appearance in text: ALK: E79K
PubMed Link: 35406707
Variant Present in the following documents:
  • cells-11-01144.pdf
View BVdb publication page



A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z
Publication Date: 2021-05

Variant appearance in text: ALK: E79K
PubMed Link: 34026427
Variant Present in the following documents:
  • ADVS-8-2001978-s004.xlsx, sheet 4
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ALK: E79K
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page