NOTCH1 c.5162T>A ;(p.V1721E)

Variant ID: 9-139397639-A-T

NM_017617.3(NOTCH1):c.5162T>A;(p.V1721E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A Chinese Child Presented with Early T Cell Precursor Lymphoblastic Lymphoma.

Case Reports In Hematology
Pu, Xiangyang X; Deng, Shengyong S; Yin, Nange N; Song, Lin L; He, Xiangling X; Xiao, Jianwen J
Publication Date: 2021

Variant appearance in text: NOTCH1: V1721E
PubMed Link: 34621551
Variant Present in the following documents:
  • Main text
  • CRIHEM2021-5561860.pdf
View BVdb publication page



Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings.

Biomedical Reports
Ishida, Hisashi H; Iguchi, Akihiro A; Aoe, Michinori M; Nishiuchi, Ritsuo R; Matsubara, Takehiro T; Keino, Dai D; Sanada, Masashi M; Shimada, Akira A
Publication Date: 2020-11

Variant appearance in text: NOTCH1: V1721E
PubMed Link: 32934818
Variant Present in the following documents:
  • Main text
View BVdb publication page



The use of PanDrugs to prioritize anticancer drug treatments in a case of T-ALL based on individual genomic data.

Bmc Cancer
Fernández-Navarro, Pablo P; López-Nieva, Pilar P; Piñeiro-Yañez, Elena E; Carreño-Tarragona, Gonzalo G; Martinez-López, Joaquín J; Sánchez Pérez, Raúl R; Aroca, Ángel Á; Al-Shahrour, Fátima F; Cobos-Fernández, María Ángeles MÁ; Fernández-Piqueras, José J
Publication Date: 2019-10-26

Variant appearance in text: NOTCH1: 5162T>A; Val1721Glu
PubMed Link: 31655559
Variant Present in the following documents:
  • 12885_2019_6209_MOESM10_ESM.xls, sheet 1
  • 12885_2019_6209_MOESM2_ESM.xlsx, sheet 1
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: V1721E
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page