F2 c.1790A>C ;(p.D597A)

Variant ID: 11-46760879-A-C

NM_000506.3(F2):c.1790A>C;(p.D597A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cytoplasmic cleavage of IMPA1 3' UTR is necessary for maintaining axon integrity.

Cell Reports
Andreassi, Catia C; Luisier, Raphaƫlle R; Crerar, Hamish H; Darsinou, Marousa M; Blokzijl-Franke, Sasja S; Lenn, Tchern T; Luscombe, Nicholas M NM; Cuda, Giovanni G; Gaspari, Marco M; Saiardi, Adolfo A; Riccio, Antonella A
Publication Date: 2021-02-23

Variant appearance in text: F2: D597A
PubMed Link: 33626357
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Phospholipase C-gamma binds directly to the Na+/H+ exchanger 3 and is required for calcium regulation of exchange activity.

The Journal Of Biological Chemistry
Zachos, Nicholas C NC; van Rossum, Damian B DB; Li, Xuhang X; Caraveo, Gabriela G; Sarker, Rafiquel R; Cha, Boyoung B; Mohan, Sachin S; Desiderio, Stephen S; Patterson, Randen L RL; Donowitz, Mark M
Publication Date: 2009-07-17

Variant appearance in text: F2: D597A
PubMed Link: 19473983
Variant Present in the following documents:
  • Main text
View BVdb publication page