NOTCH1 c.4985G>T ;(p.R1662L)

Variant ID: 9-139399158-C-A

NM_017617.3(NOTCH1):c.4985G>T;(p.R1662L)

This variant was identified in 4 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: 4985G>T; Arg1662Leu
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells.

Haematologica
Ouseph, Madhu M MM; Hasserjian, Robert P RP; Dal Cin, Paola P; Lovitch, Scott B SB; Steensma, David P DP; Nardi, Valentina V; Weinberg, Olga K OK
Publication Date: 2021-02-01

Variant appearance in text: NOTCH1: 4985G>T; R1662L
PubMed Link: 32193254
Variant Present in the following documents:
  • 2019_240689_OUSEPH_SUPPL.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: NOTCH1: R1662L
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Leukemia
Larson Gedman, A A; Chen, Q Q; Kugel Desmoulin, S S; Ge, Y Y; LaFiura, K K; Haska, C L CL; Cherian, C C; Devidas, M M; Linda, S B SB; Taub, J W JW; Matherly, L H LH
Publication Date: 2009-08

Variant appearance in text: NOTCH1: R1662L
PubMed Link: 19340001
Variant Present in the following documents:
  • Main text
  • nihms98506.pdf
View BVdb publication page