NOTCH1 c.4238G>A ;(p.R1413H)

Variant ID: 9-139400110-C-T

NM_017617.3(NOTCH1):c.4238G>A;(p.R1413H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis.

Cancer Discovery
Schaettler, Maximilian O MO; Richters, Megan M MM; Wang, Anthony Z AZ; Skidmore, Zachary L ZL; Fisk, Bryan B; Miller, Katherine E KE; Vickery, Tammi L TL; Kim, Albert H AH; Chicoine, Michael R MR; Osbun, Joshua W JW; Leuthardt, Eric C EC; Dowling, Joshua L JL; Zipfel, Gregory J GJ; Dacey, Ralph G RG; Lu, Hsiang-Chih HC; Johanns, Tanner M TM; Griffith, Obi L OL; Mardis, Elaine R ER; Griffith, Malachi M; Dunn, Gavin P GP
Publication Date: 2022-01

Variant appearance in text: NOTCH1: 4238G>A; Arg1413His
PubMed Link: 34610950
Variant Present in the following documents:
  • cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 92
View BVdb publication page



Retinoblastoma from human stem cell-derived retinal organoids.

Nature Communications
Norrie, Jackie L JL; Nityanandam, Anjana A; Lai, Karen K; Chen, Xiang X; Wilson, Matthew M; Stewart, Elizabeth E; Griffiths, Lyra L; Jin, Hongjian H; Wu, Gang G; Orr, Brent B; Tran, Quynh Q; Allen, Sariah S; Reilly, Colleen C; Zhou, Xin X; Zhang, Jiakun J; Newman, Kyle K; Johnson, Dianna D; Brennan, Rachel R; Dyer, Michael A MA
Publication Date: 2021-07-27

Variant appearance in text: NOTCH1: R1413H
PubMed Link: 34315877
Variant Present in the following documents:
  • 41467_2021_24781_MOESM7_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16

Variant appearance in text: rs371068504
PubMed Link: 30992440
Variant Present in the following documents:
  • 41467_2019_9762_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: R1413H
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Breast liposarcoma with solitary metastasis to the pleura: A case report.

Medicine
Lei, Lei L; Chen, Zhanhong Z; Wang, Zhuo Z; Zheng, Linfeng L; Zheng, Yabing Y; Wang, Xiaojia X; Wang, Xian X
Publication Date: 2017-07

Variant appearance in text: NOTCH1: R1413H
PubMed Link: 28682882
Variant Present in the following documents:
  • Main text
  • medi-96-e7340.pdf
View BVdb publication page