CFTR c.276A>C ;(p.E92D)

Variant ID: 7-117170955-A-C

NM_000492.3(CFTR):c.276A>C;(p.E92D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.

The Journal Of Biological Chemistry
Linsdell, Paul P; Irving, Christina L CL; Cowley, Elizabeth A EA
Publication Date: 2022-03

Variant appearance in text: CFTR: E92D
PubMed Link: 35101441
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

Molecular Biology Of The Cell
Ren, Hong Yu HY; Grove, Diane E DE; De La Rosa, Oxana O; Houck, Scott A SA; Sopha, Pattarawut P; Van Goor, Fredrick F; Hoffman, Beth J BJ; Cyr, Douglas M DM
Publication Date: 2013-10

Variant appearance in text: CFTR: E92D
PubMed Link: 23924900
Variant Present in the following documents:
  • supp_E13-05-0240v1_CombinedSupMats.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: CFTR: E92D
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page