CFTR c.283A>G ;(p.K95E)

Variant ID: 7-117170962-A-G

NM_000492.3(CFTR):c.283A>G;(p.K95E)

This variant was identified in 4 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: K95E
PubMed Link: 35101441
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



In silico analysis on the functional and structural impact of Rad50 mutations involved in DNA strand break repair.

Peerj
Remali, Juwairiah J; Aizat, Wan Mohd WM; Ng, Chyan Leong CL; Lim, Yi Chieh YC; Mohamed-Hussein, Zeti-Azura ZA; Fazry, Shazrul S
Publication Date: 2020

Variant appearance in text: CFTR: K95E
PubMed Link: 32509463
Variant Present in the following documents:
  • Main text
  • peerj-08-9197.pdf
View BVdb publication page



The bidirectional relationship between CFTR and lipids.

Communications Biology
Cottrill, Kirsten A KA; Farinha, Carlos M CM; McCarty, Nael A NA
Publication Date: 2020-04-20

Variant appearance in text: CFTR: K95E
PubMed Link: 32313074
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_909.pdf
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: K95E
PubMed Link: 9379167
Variant Present in the following documents:
  • Main text
  • GP7443.pdf
View BVdb publication page