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CFTR c.2977_2978delinsTG ;(p.D993C)
Variant ID: 7-117246796-GA-TG
NM_000492.3(
CFTR
):c.2977_2978delinsTG;(p.D993C)
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:
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: D993C
PubMed Link:
29581173
Variant Present in the following documents:
JGP_201711946_TableS1.pdf
View BVdb publication page
Transmembrane helical interactions in the CFTR channel pore.
Plos Computational Biology
Das, Jhuma J; Aleksandrov, Andrei A AA; Cui, Liying L; He, Lihua L; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2017-06
Variant appearance in text: CFTR: D993C
PubMed Link:
28640808
Variant Present in the following documents:
Main text
pcbi.1005594.pdf
View BVdb publication page
Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.
The Journal Of General Physiology
Cui, Guiying G; Rahman, Kazi S KS; Infield, Daniel T DT; Kuang, Christopher C; Prince, Chengyu Z CZ; McCarty, Nael A NA
Publication Date: 2014-08
Variant appearance in text: CFTR: D993C
PubMed Link:
25024266
Variant Present in the following documents:
Main text
JGP_201311122.pdf
View BVdb publication page
Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.
The Journal Of Biological Chemistry
Cui, Guiying G; Freeman, Cody S CS; Knotts, Taylor T; Prince, Chengyu Z CZ; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2013-07-12
Variant appearance in text: CFTR: D993C
PubMed Link:
23709221
Variant Present in the following documents:
Main text
View BVdb publication page