NOTCH1 c.4627G>A ;(p.G1543R)

Variant ID: 9-139399516-C-T

NM_017617.3(NOTCH1):c.4627G>A;(p.G1543R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: NOTCH1: G1543R
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology
Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X
Publication Date: 2022

Variant appearance in text: NOTCH1: 4627G>A; Gly1543Arg
PubMed Link: 35874768
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine
Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X
Publication Date: 2022-04

Variant appearance in text: NOTCH1: G1543R
PubMed Link: 35415904
Variant Present in the following documents:
  • CTM2-12-e808-s003.xlsx, sheet 2
View BVdb publication page



The First Korean Case of NUP98-NSD1 and a Novel SNRK-ETV6 Fusion in a Pediatric Therapy-related Acute Myeloid Leukemia Patient Detected by Targeted RNA Sequencing.

Annals Of Laboratory Medicine
Lim, Ha Jin HJ; Lee, Jun Hyung JH; Lee, Young Eun YE; Baek, Hee-Jo HJ; Kook, Hoon H; Park, Ju Heon JH; Lee, Seung Yeob SY; Choi, Hyun-Woo HW; Choi, Hyun-Jung HJ; Kee, Seung-Jung SJ; Shin, Jong Hee JH; Shin, Myung Geun MG
Publication Date: 2021-07-01

Variant appearance in text: NOTCH1: 4627G>A; Gly1543Arg
PubMed Link: 33536367
Variant Present in the following documents:
  • alm-41-4-443.pdf
View BVdb publication page