NOTCH1 c.7003dup ;(p.L2335Pfs*19)

Variant ID: 9-139391187-A-AG

NM_017617.3(NOTCH1):c.7003dup;(p.L2335Pfs*19)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Leukemia
Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A
Publication Date: 2022-06

Variant appearance in text: NOTCH1: 7003dupC; L2335Pfs*19
PubMed Link: 35411095
Variant Present in the following documents:
  • NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Plos One
Pouliot, Gayle P GP; Degar, James J; Hinze, Laura L; Kochupurakkal, Bose B; Vo, Chau D CD; Burns, Melissa A MA; Moreau, Lisa L; Ganesa, Chirag C; Roderick, Justine J; Peirs, Sofie S; Menten, Bjorn B; Loh, Mignon L ML; Hunger, Stephen P SP; Silverman, Lewis B LB; Harris, Marian H MH; Stevenson, Kristen E KE; Weinstock, David M DM; Weng, Andrew P AP; Van Vlierberghe, Pieter P; D'Andrea, Alan D AD; Gutierrez, Alejandro A
Publication Date: 2019

Variant appearance in text: NOTCH1: 7003dupC; L2335Pfs*19
PubMed Link: 31721781
Variant Present in the following documents:
  • pone.0221288.s012.xlsx, sheet 1
View BVdb publication page



PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.

The Journal Of Experimental Medicine
Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A
Publication Date: 2018-12-03

Variant appearance in text: NOTCH1: 7003dupC; L2335Pfs*19
PubMed Link: 30404791
Variant Present in the following documents:
  • JEM_20180570_TableS4.xlsx, sheet 1
View BVdb publication page



Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

Clinical Lymphoma, Myeloma & Leukemia
DiNardo, Courtney D CD; Bannon, Sarah A SA; Routbort, Mark M; Franklin, Anna A; Mork, Maureen M; Armanios, Mary M; Mace, Emily M EM; Orange, Jordan S JS; Jeff-Eke, Meselle M; Churpek, Jane E JE; Takahashi, Koichi K; Jorgensen, Jeffrey L JL; Garcia-Manero, Guillermo G; Kornblau, Steve S; Bertuch, Alison A; Cheung, Hannah H; Bhalla, Kapil K; Futreal, Andrew A; Godley, Lucy A LA; Patel, Keyur P KP
Publication Date: 2016-07

Variant appearance in text: NOTCH1: 7003dupC
PubMed Link: 27210295
Variant Present in the following documents:
  • Main text
View BVdb publication page