SI c.3232_3233delinsTA ;(p.R1078*)

Variant ID: 3-164739038-CG-TA

NM_001041.3(SI):c.3232_3233delinsTA;(p.R1078*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: SI: Arg1078Ter
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kurien, Philip P; Hsu, Pei-Ken PK; Leon, Jacy J; Wu, David D; McMahon, Thomas T; Shi, Guangsen G; Xu, Ying Y; Lipzen, Anna A; Pennacchio, Len A LA; Jones, Christopher R CR; Fu, Ying-Hui YH; Ptáček, Louis J LJ
Publication Date: 2019-06-11

Variant appearance in text: SI: R1078X
PubMed Link: 31138685
Variant Present in the following documents:
  • Main text
View BVdb publication page