CFTR c.1456G>C ;(p.G486R)

Variant ID: 7-117199581-G-C

NM_000492.3(CFTR):c.1456G>C;(p.G486R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Understanding the Functional Expression of Na+-Coupled SLC4 Transporters in the Renal and Nervous Systems: A Review.

Brain Sciences
Du, Le L; Zahra, Aqeela A; Jia, Meng M; Wang, Qun Q; Wu, Jianping J
Publication Date: 2021-09-26

Variant appearance in text: CFTR: G486R
PubMed Link: 34679341
Variant Present in the following documents:
  • Main text
  • brainsci-11-01276.pdf
View BVdb publication page



Cation-coupled bicarbonate transporters.

Comprehensive Physiology
Aalkjaer, Christian C; Boedtkjer, Ebbe E; Choi, Inyeong I; Lee, Soojung S
Publication Date: 2014-10

Variant appearance in text: CFTR: G486R
PubMed Link: 25428855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular mechanisms of renal and extrarenal manifestations caused by inactivation of the electrogenic Na(+)-HCO3 (-) cotransporter NBCe1.

Frontiers In Physiology
Seki, George G; Horita, Shoko S; Suzuki, Masashi M; Yamazaki, Osamu O; Usui, Tomohiko T; Nakamura, Motonobu M; Yamada, Hideomi H
Publication Date: 2013-10-01

Variant appearance in text: CFTR: G486R
PubMed Link: 24101904
Variant Present in the following documents:
  • Main text
  • fphys-04-00270.pdf
View BVdb publication page



The SLC4 family of bicarbonate (HCO₃⁻) transporters.

Molecular Aspects Of Medicine
Romero, Michael F MF; Chen, An-Ping AP; Parker, Mark D MD; Boron, Walter F WF
Publication Date: 2013

Variant appearance in text: CFTR: G486R
PubMed Link: 23506864
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Roles of Electrogenic Sodium Bicarbonate Cotransporter NBCe1 in Ocular Tissues.

The Open Ophthalmology Journal
Suzuki, Masashi M; Seki, George G; Yamada, Hideomi H; Horita, Shoko S; Fujita, Toshiro T
Publication Date: 2012

Variant appearance in text: CFTR: G486R
PubMed Link: 22798968
Variant Present in the following documents:
  • TOOPHTJ-6-36.pdf
View BVdb publication page



Modular structure of sodium-coupled bicarbonate transporters.

The Journal Of Experimental Biology
Boron, Walter F WF; Chen, Liming L; Parker, Mark D MD
Publication Date: 2009-06

Variant appearance in text: CFTR: G486R
PubMed Link: 19448079
Variant Present in the following documents:
  • Main text
View BVdb publication page