CFTR c.1531_1532inv ;(p.S511D)

Variant ID: 7-117199656-TC-GA

NM_000492.3(CFTR):c.1531_1532inv;(p.S511D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


CFTR mutations altering CFTR fragmentation.

The Biochemical Journal
Tosoni, Kendra K; Stobbart, Michelle M; Cassidy, Diane M DM; Venerando, Andrea A; Pagano, Mario A MA; Luz, Simão S; Amaral, Margarida D MD; Kunzelmann, Karl K; Pinna, Lorenzo A LA; Farinha, Carlos M CM; Mehta, Anil A
Publication Date: 2013-01-01

Variant appearance in text: CFTR: S511D
PubMed Link: 23067305
Variant Present in the following documents:
  • Main text
  • bj4490295.pdf
View BVdb publication page



Contribution of casein kinase 2 and spleen tyrosine kinase to CFTR trafficking and protein kinase A-induced activity.

Molecular And Cellular Biology
Luz, Simão S; Kongsuphol, Patthara P; Mendes, Ana Isabel AI; Romeiras, Francisco F; Sousa, Marisa M; Schreiber, Rainer R; Matos, Paulo P; Jordan, Peter P; Mehta, Anil A; Amaral, Margarida D MD; Kunzelmann, Karl K; Farinha, Carlos M CM
Publication Date: 2011-11

Variant appearance in text: CFTR: S511D
PubMed Link: 21930781
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibition of protein kinase CK2 closes the CFTR Cl channel, but has no effect on the cystic fibrosis mutant deltaF508-CFTR.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Treharne, Kate J KJ; Xu, Zhe Z; Chen, Jeng-Haur JH; Best, O Giles OG; Cassidy, Diane M DM; Gruenert, Dieter C DC; Hegyi, Péter P; Gray, Michael A MA; Sheppard, David N DN; Kunzelmann, Karl K; Mehta, Anil A
Publication Date: 2009

Variant appearance in text: CFTR: S511D
PubMed Link: 19910675
Variant Present in the following documents:
  • Main text
View BVdb publication page