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CFTR c.3088_3089delinsGA ;(p.R1030E)
Variant ID: 7-117250672-AG-GA
NM_000492.3(
CFTR
):c.3088_3089delinsGA;(p.R1030E)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Positive charges at the intracellular mouth of the pore regulate anion conduction in the CFTR chloride channel.
The Journal Of General Physiology
Aubin, Chantal N St CN; Linsdell, Paul P
Publication Date: 2006-11
Variant appearance in text: CFTR: R1030E
PubMed Link:
17043152
Variant Present in the following documents:
Main text
jgp1280535.pdf
View BVdb publication page
Halide permeation in wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels.
The Journal Of General Physiology
Tabcharani, J A JA; Linsdell, P P; Hanrahan, J W JW
Publication Date: 1997-10
Variant appearance in text: CFTR: R1030E
PubMed Link:
9379167
Variant Present in the following documents:
Main text
View BVdb publication page
Locating the anion-selectivity filter of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.
The Journal Of General Physiology
Cheung, M M; Akabas, M H MH
Publication Date: 1997-03
Variant appearance in text: CFTR: R1030E
PubMed Link:
9089437
Variant Present in the following documents:
Main text
7357.pdf
View BVdb publication page