CFTR c.701C>A ;(p.A234D)

Variant ID: 7-117175423-C-A

NM_000492.3(CFTR):c.701C>A;(p.A234D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)
Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P
Publication Date: 2022-12-20

Variant appearance in text: CFTR: A234D
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: CFTR: A234D
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
View BVdb publication page



The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue.

The Journal Of Biological Chemistry
Sabusap, Carleen Mae CM; Joshi, Disha D; Simhaev, Luba L; Oliver, Kathryn E KE; Senderowitz, Hanoch H; van Willigen, Marcel M; Braakman, Ineke I; Rab, Andras A; Sorscher, Eric J EJ; Hong, Jeong S JS
Publication Date: 2021

Variant appearance in text: CFTR: A234D
PubMed Link: 33781744
Variant Present in the following documents:
  • main.pdf
View BVdb publication page