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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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