SI c.271_273delinsTGT ;(p.R91C)

Variant ID: 3-164786966-TCT-ACA

NM_001041.3(SI):c.271_273delinsTGT;(p.R91C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.

Human Molecular Genetics
Elorza-Vidal, Xabier X; Xicoy-Espaulella, Efren E; Pla-Casillanis, Adrià A; Alonso-Gardón, Marta M; Gaitán-Peñas, Héctor H; Engel-Pizcueta, Carolyn C; Fernández-Recio, Juan J; Estévez, Raúl R
Publication Date: 2020-05-08

Variant appearance in text: SI: R91C
PubMed Link: 31960914
Variant Present in the following documents:
  • Main text
  • ddaa009.pdf
View BVdb publication page



Ca(2+) release-activated Ca(2+) (CRAC) current, structure, and function.

Cellular And Molecular Life Sciences : Cmls
Muik, Martin M; Schindl, Rainer R; Fahrner, Marc M; Romanin, Christoph C
Publication Date: 2012-12

Variant appearance in text: SI: R91C
PubMed Link: 22802126
Variant Present in the following documents:
  • 18_2012_Article_1072.pdf
View BVdb publication page



Mutations in Orai1 transmembrane segment 1 cause STIM1-independent activation of Orai1 channels at glycine 98 and channel closure at arginine 91.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Shenyuan L SL; Yeromin, Andriy V AV; Hu, Junjie J; Amcheslavsky, Anna A; Zheng, Hongying H; Cahalan, Michael D MD
Publication Date: 2011-10-25

Variant appearance in text: SI: R91C
PubMed Link: 21987804
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural determinants of ion permeation in CRAC channels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
McNally, Beth A BA; Yamashita, Megumi M; Engh, Anita A; Prakriya, Murali M
Publication Date: 2009-12-29

Variant appearance in text: SI: R91C
PubMed Link: 20018736
Variant Present in the following documents:
  • Main text
View BVdb publication page