CFTR c.1652_1653delinsAG ;(p.G551E)

Variant ID: 7-117227860-GT-AG

NM_000492.3(CFTR):c.1652_1653delinsAG;(p.G551E)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: G551E
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page



Synergistic Potentiation of Cystic Fibrosis Transmembrane Conductance Regulator Gating by Two Chemically Distinct Potentiators, Ivacaftor (VX-770) and 5-Nitro-2-(3-Phenylpropylamino) Benzoate.

Molecular Pharmacology
Lin, Wen-Ying WY; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2016-09

Variant appearance in text: CFTR: G551E
PubMed Link: 27413118
Variant Present in the following documents:
  • Main text
View BVdb publication page



A single amino acid substitution in CFTR converts ATP to an inhibitory ligand.

The Journal Of General Physiology
Lin, Wen-Ying WY; Jih, Kang-Yang KY; Hwang, Tzyh-Chang TC
Publication Date: 2014-10

Variant appearance in text: CFTR: G551E
PubMed Link: 25225552
Variant Present in the following documents:
  • Main text
  • JGP_201411247.pdf
View BVdb publication page



Emergent properties of proteostasis in managing cystic fibrosis.

Cold Spring Harbor Perspectives In Biology
Balch, William E WE; Roth, Daniela M DM; Hutt, Darren M DM
Publication Date: 2011-02-01

Variant appearance in text: CFTR: G551E
PubMed Link: 21421917
Variant Present in the following documents:
  • Main text
View BVdb publication page



The proteostasis boundary in misfolding diseases of membrane traffic.

Febs Letters
Hutt, Darren M DM; Powers, Evan T ET; Balch, William E WE
Publication Date: 2009-08-20

Variant appearance in text: CFTR: G551E
PubMed Link: 19708088
Variant Present in the following documents:
  • Main text
View BVdb publication page