NOTCH1 c.1396_1397inv ;(p.T466V)

Variant ID: 9-139412248-GT-AC

NM_017617.3(NOTCH1):c.1396_1397inv;(p.T466V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Modulation of the NOTCH1 Pathway by LUNATIC FRINGE Is Dominant over That of MANIC or RADICAL FRINGE.

Molecules (Basel, Switzerland)
Pennarubia, Florian F; Nairn, Alison V AV; Takeuchi, Megumi M; Moremen, Kelley W KW; Haltiwanger, Robert S RS
Publication Date: 2021-09-30

Variant appearance in text: NOTCH1: T466V
PubMed Link: 34641486
Variant Present in the following documents:
  • Main text
  • molecules-26-05942.pdf
View BVdb publication page



O-Fucose and Fringe-modified NOTCH1 extracellular domain fragments as decoys to release niche-lodged hematopoietic progenitor cells.

Glycobiology
Yu, Shuiliang S; Wang, Weihuan W; Albakri, Marwah M; Yu, Xiaoxing X; Majihail, Gurnoor G; Lim, Seunghwan S; Lopilato, Rachel K RK; Ito, Atsuko A; Letterio, John J; Haltiwanger, Robert S RS; Zhou, Lan L
Publication Date: 2021-06-03

Variant appearance in text: NOTCH1: T466V
PubMed Link: 33351914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two novel protein O-glucosyltransferases that modify sites distinct from POGLUT1 and affect Notch trafficking and signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Takeuchi, Hideyuki H; Schneider, Michael M; Williamson, Daniel B DB; Ito, Atsuko A; Takeuchi, Megumi M; Handford, Penny A PA; Haltiwanger, Robert S RS
Publication Date: 2018-09-04

Variant appearance in text: NOTCH1: T466V
PubMed Link: 30127001
Variant Present in the following documents:
  • Main text
View BVdb publication page