NDEL1 c.1024C>T ;(p.P342S)

Variant ID: 17-8370327-C-T

NM_030808.4(NDEL1):c.1024C>T;(p.P342S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: NDEL1: 1024C>T; P342S; rs138529114
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: NDEL1: P342S; rs138529114
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

Plos One
Moens, Lotte N LN; De Rijk, Peter P; Reumers, Joke J; Van den Bossche, Maarten J A MJ; Glassee, Wim W; De Zutter, Sonia S; Lenaerts, An-Sofie AS; Nordin, Annelie A; Nilsson, Lars-Göran LG; Medina Castello, Ignacio I; Norrback, Karl-Fredrik KF; Goossens, Dirk D; Van Steen, Kristel K; Adolfsson, Rolf R; Del-Favero, Jurgen J
Publication Date: 2011

Variant appearance in text: NDEL1: P342S
PubMed Link: 21853134
Variant Present in the following documents:
  • Main text
  • pone.0023450.pdf
View BVdb publication page