CFTR c.283_285delinsGAC ;(p.K95D)

Variant ID: 7-117170962-AAA-GAC

NM_000492.3(CFTR):c.283_285delinsGAC;(p.K95D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


VAMP-associated Proteins (VAP) as Receptors That Couple Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Proteostasis with Lipid Homeostasis.

The Journal Of Biological Chemistry
Ernst, Wayne L WL; Shome, Kuntala K; Wu, Christine C CC; Gong, Xiaoyan X; Frizzell, Raymond A RA; Aridor, Meir M
Publication Date: 2016-03-04

Variant appearance in text: CFTR: K95D
PubMed Link: 26740627
Variant Present in the following documents:
  • Main text
View BVdb publication page



Halide permeation in wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels.

The Journal Of General Physiology
Tabcharani, J A JA; Linsdell, P P; Hanrahan, J W JW
Publication Date: 1997-10

Variant appearance in text: CFTR: K95D
PubMed Link: 9379167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Locating the anion-selectivity filter of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.

The Journal Of General Physiology
Cheung, M M; Akabas, M H MH
Publication Date: 1997-03

Variant appearance in text: CFTR: K95D
PubMed Link: 9089437
Variant Present in the following documents:
  • Main text
  • 7357.pdf
View BVdb publication page