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CFTR c.517_518delinsCG ;(p.D173R)
Variant ID: 7-117174357-GA-CG
NM_000492.3(
CFTR
):c.517_518delinsCG;(p.D173R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy.
Bioscience Reports
Farinha, Carlos M CM; Callebaut, Isabelle I
Publication Date: 2022-07-29
Variant appearance in text: CFTR: D173R
PubMed Link:
35707985
Variant Present in the following documents:
Main text
bsr-42-bsr20212006.pdf
View BVdb publication page
G551D mutation impairs PKA-dependent activation of CFTR channel that can be restored by novel GOF mutations.
American Journal Of Physiology. Lung Cellular And Molecular Physiology
Wang, Wei W; Fu, Lianwu L; Liu, Zhiyong Z; Wen, Hui H; Rab, Andras A; Hong, Jeong S JS; Kirk, Kevin L KL; Rowe, Steven M SM
Publication Date: 2020-11-01
Variant appearance in text: CFTR: D173R
PubMed Link:
32877225
Variant Present in the following documents:
Main text
View BVdb publication page