NOTCH1 c.931_932inv ;(p.T311V)

Variant ID: 9-139413210-GT-AC

NM_017617.3(NOTCH1):c.931_932inv;(p.T311V)

This variant was identified in 2 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: T311V
PubMed Link: 34641486
Variant Present in the following documents:
  • Main text
  • molecules-26-05942.pdf
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: T311V
PubMed Link: 30127001
Variant Present in the following documents:
  • Main text
View BVdb publication page