CFTR c.2506_2508delinsTAA ;(p.D836*)

Variant ID: 7-117234999-GAT-TAA

NM_000492.3(CFTR):c.2506_2508delinsTAA;(p.D836*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Subject Index.

International Review Of Cytology
Publication Date: 1997

Variant appearance in text: CFTR: D836X
PubMed Link: 32287481
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Mutations at arginine 352 alter the pore architecture of CFTR.

The Journal Of Membrane Biology
Cui, Guiying G; Zhang, Zhi-Ren ZR; O'Brien, Andrew R W AR; Song, Binlin B; McCarty, Nael A NA
Publication Date: 2008-03

Variant appearance in text: CFTR: D836X
PubMed Link: 18421494
Variant Present in the following documents:
  • Main text
View BVdb publication page



Severed channels probe regulation of gating of cystic fibrosis transmembrane conductance regulator by its cytoplasmic domains.

The Journal Of General Physiology
Csanády, L L; Chan, K W KW; Seto-Young, D D; Kopsco, D C DC; Nairn, A C AC; Gadsby, D C DC
Publication Date: 2000-09

Variant appearance in text: CFTR: D836X
PubMed Link: 10962022
Variant Present in the following documents:
  • Main text
  • 8201.pdf
View BVdb publication page