NOTCH1 c.4464G>T ;(p.K1488N)

Variant ID: 9-139399884-C-A

NM_017617.3(NOTCH1):c.4464G>T;(p.K1488N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: NOTCH1: 4464G>T; Lys1488Asn
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0.

Journal Of Cellular And Molecular Medicine
Manchev, Vladimir T VT; Bouzid, Hind H; Antony-Debré, Iléana I; Leite, Betty B; Meurice, Guillaume G; Droin, Nathalie N; Prebet, Thomas T; Costello, Régis T RT; Vainchenker, William W; Plo, Isabelle I; Diop, M'boyba M; Macintyre, Elizabeth E; Asnafi, Vahid V; Favier, Rémi R; Baccini, Véronique V; Raslova, Hana H
Publication Date: 2017-06

Variant appearance in text: NOTCH1: K1488N
PubMed Link: 27997762
Variant Present in the following documents:
  • Main text
  • JCMM-21-1237-s002.xlsx, sheet 3
  • JCMM-21-1237.pdf
View BVdb publication page