NOTCH1 c.553A>G ;(p.K185E)

Variant ID: 9-139417491-T-C

NM_017617.3(NOTCH1):c.553A>G;(p.K185E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: NOTCH1: K185E
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.

Plos One
Wooten, Eric C EC; Iyer, Lakshmanan K LK; Montefusco, Maria Claudia MC; Hedgepeth, Alyson Kelley AK; Payne, Douglas D DD; Kapur, Navin K NK; Housman, David E DE; Mendelsohn, Michael E ME; Huggins, Gordon S GS
Publication Date: 2010-01-21

Variant appearance in text: NOTCH1: K185E
PubMed Link: 20098615
Variant Present in the following documents:
  • Main text
  • pone.0008830.pdf
View BVdb publication page