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CFTR c.2506_2508delinsTAA ;(p.D836*)
Variant ID: 7-117234999-GAT-TAA
NM_000492.3(
CFTR
):c.2506_2508delinsTAA;(p.D836*)
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:
Subject Index.
International Review Of Cytology
Publication Date: 1997
Variant appearance in text: CFTR: D836X
PubMed Link:
32287481
Variant Present in the following documents:
main.pdf
View BVdb publication page
Mutations at arginine 352 alter the pore architecture of CFTR.
The Journal Of Membrane Biology
Cui, Guiying G; Zhang, Zhi-Ren ZR; O'Brien, Andrew R W AR; Song, Binlin B; McCarty, Nael A NA
Publication Date: 2008-03
Variant appearance in text: CFTR: D836X
PubMed Link:
18421494
Variant Present in the following documents:
Main text
View BVdb publication page
Severed channels probe regulation of gating of cystic fibrosis transmembrane conductance regulator by its cytoplasmic domains.
The Journal Of General Physiology
Csanády, L L; Chan, K W KW; Seto-Young, D D; Kopsco, D C DC; Nairn, A C AC; Gadsby, D C DC
Publication Date: 2000-09
Variant appearance in text: CFTR: D836X
PubMed Link:
10962022
Variant Present in the following documents:
Main text
8201.pdf
View BVdb publication page