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CFTR c.3656A>T ;(p.Y1219F)
Variant ID: 7-117267763-A-T
NM_000492.3(
CFTR
):c.3656A>T;(p.Y1219F)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: Y1219F
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: Y1219F
PubMed Link:
25225552
Variant Present in the following documents:
Main text
JGP_201411247.pdf
View BVdb publication page
A stable ATP binding to the nucleotide binding domain is important for reliable gating cycle in an ABC transporter CFTR.
The Journal Of Physiological Sciences : Jps
Shimizu, Hiroyasu H; Yu, Ying-Chun YC; Kono, Koichi K; Kubota, Takahiro T; Yasui, Masato M; Li, Min M; Hwang, Tzyh-Chang TC; Sohma, Yoshiro Y
Publication Date: 2010-09
Variant appearance in text: CFTR: Y1219F
PubMed Link:
20628841
Variant Present in the following documents:
Main text
View BVdb publication page
The two ATP binding sites of cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics.
The Journal Of General Physiology
Zhou, Zhen Z; Wang, Xiaohui X; Liu, Hao-Yang HY; Zou, Xiaoqin X; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2006-10
Variant appearance in text: CFTR: Y1219F
PubMed Link:
16966475
Variant Present in the following documents:
Main text
jgp1280413.pdf
View BVdb publication page