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CFTR c.1652_1653delinsAG ;(p.G551E)
Variant ID: 7-117227860-GT-AG
NM_000492.3(
CFTR
):c.1652_1653delinsAG;(p.G551E)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structural mechanisms of CFTR function and dysfunction.
The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02
Variant appearance in text: CFTR: G551E
PubMed Link:
29581173
Variant Present in the following documents:
Main text
JGP_201711946.pdf
View BVdb publication page
Synergistic Potentiation of Cystic Fibrosis Transmembrane Conductance Regulator Gating by Two Chemically Distinct Potentiators, Ivacaftor (VX-770) and 5-Nitro-2-(3-Phenylpropylamino) Benzoate.
Molecular Pharmacology
Lin, Wen-Ying WY; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2016-09
Variant appearance in text: CFTR: G551E
PubMed Link:
27413118
Variant Present in the following documents:
Main text
View BVdb publication page
A single amino acid substitution in CFTR converts ATP to an inhibitory ligand.
The Journal Of General Physiology
Lin, Wen-Ying WY; Jih, Kang-Yang KY; Hwang, Tzyh-Chang TC
Publication Date: 2014-10
Variant appearance in text: CFTR: G551E
PubMed Link:
25225552
Variant Present in the following documents:
Main text
JGP_201411247.pdf
View BVdb publication page
Emergent properties of proteostasis in managing cystic fibrosis.
Cold Spring Harbor Perspectives In Biology
Balch, William E WE; Roth, Daniela M DM; Hutt, Darren M DM
Publication Date: 2011-02-01
Variant appearance in text: CFTR: G551E
PubMed Link:
21421917
Variant Present in the following documents:
Main text
View BVdb publication page
The proteostasis boundary in misfolding diseases of membrane traffic.
Febs Letters
Hutt, Darren M DM; Powers, Evan T ET; Balch, William E WE
Publication Date: 2009-08-20
Variant appearance in text: CFTR: G551E
PubMed Link:
19708088
Variant Present in the following documents:
Main text
View BVdb publication page