CFTR c.4204_4205delinsGC ;(p.H1402A)

Variant ID: 7-117305580-CA-GC

NM_000492.3(CFTR):c.4204_4205delinsGC;(p.H1402A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

The Journal Of Biological Chemistry
Vernon, Robert M RM; Chong, P Andrew PA; Lin, Hong H; Yang, Zhengrong Z; Zhou, Qingxian Q; Aleksandrov, Andrei A AA; Dawson, Jennifer E JE; Riordan, John R JR; Brouillette, Christie G CG; Thibodeau, Patrick H PH; Forman-Kay, Julie D JD
Publication Date: 2017-08-25

Variant appearance in text: CFTR: H1402A
PubMed Link: 28655774
Variant Present in the following documents:
  • Main text
View BVdb publication page



A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Sharma, Neeraj N; LaRusch, Jessica J; Sosnay, Patrick R PR; Gottschalk, Laura B LB; Lopez, Andrea P AP; Pellicore, Matthew J MJ; Evans, Taylor T; Davis, Emily E; Atalar, Melis M; Na, Chan-Hyun CH; Rosson, Gedge D GD; Belchis, Deborah D; Milewski, Michal M; Pandey, Akhilesh A; Cutting, Garry R GR
Publication Date: 2016-12-01

Variant appearance in text: CFTR: H1402A
PubMed Link: 27793802
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development and characterization of synthetic antibodies binding to the cystic fibrosis conductance regulator.

Mabs
Gakhal, Amandeep K AK; Jensen, Timothy J TJ; Bozoky, Zoltan Z; Roldan, Ariel A; Lukacs, Gergely L GL; Forman-Kay, Julie J; Riordan, John R JR; Sidhu, Sachdev S SS
Publication Date: 2016

Variant appearance in text: CFTR: H1402A
PubMed Link: 27185291
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulatory R region of the CFTR chloride channel is a dynamic integrator of phospho-dependent intra- and intermolecular interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bozoky, Zoltan Z; Krzeminski, Mickael M; Muhandiram, Ranjith R; Birtley, James R JR; Al-Zahrani, Ateeq A; Thomas, Philip J PJ; Frizzell, Raymond A RA; Ford, Robert C RC; Forman-Kay, Julie D JD
Publication Date: 2013-11-19

Variant appearance in text: CFTR: H1402A
PubMed Link: 24191035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator (ABCC7) structure.

Cold Spring Harbor Perspectives In Medicine
Hunt, John F JF; Wang, Chi C; Ford, Robert C RC
Publication Date: 2013-02-01

Variant appearance in text: CFTR: H1402A
PubMed Link: 23378596
Variant Present in the following documents:
  • Main text
View BVdb publication page



The H-loop in the second nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator is required for efficient chloride channel closing.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Kloch, Monika M; Milewski, Michał M; Nurowska, Ewa E; Dworakowska, Beata B; Cutting, Garry R GR; Dołowy, Krzysztof K
Publication Date: 2010

Variant appearance in text: CFTR: H1402A
PubMed Link: 20110677
Variant Present in the following documents:
  • Main text
View BVdb publication page