CFTR c.3205_3207delinsTGT ;(p.G1069C)

Variant ID: 7-117251700-GGA-TGT

NM_000492.3(CFTR):c.3205_3207delinsTGT;(p.G1069C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Allosteric modulation balances thermodynamic stability and restores function of ΔF508 CFTR.

Journal Of Molecular Biology
Aleksandrov, Andrei A AA; Kota, Pradeep P; Cui, Liying L; Jensen, Tim T; Alekseev, Alexey E AE; Reyes, Santiago S; He, Lihua L; Gentzsch, Martina M; Aleksandrov, Luba A LA; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2012-05-25

Variant appearance in text: CFTR: G1069C
PubMed Link: 22406676
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Serohijos, Adrian W R AW; Hegedus, Tamás T; Aleksandrov, Andrei A AA; He, Lihua L; Cui, Liying L; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2008-03-04

Variant appearance in text: CFTR: G1069C
PubMed Link: 18305154
Variant Present in the following documents:
  • Main text
View BVdb publication page