CFTR c.997_998delinsTG ;(p.L333C)

Variant ID: 7-117180281-CT-TG

NM_000492.3(CFTR):c.997_998delinsTG;(p.L333C)

This variant was identified in 4 publications

View GRCh38 version.




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: L333C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page



Alternating access to the transmembrane domain of the ATP-binding cassette protein cystic fibrosis transmembrane conductance regulator (ABCC7).

The Journal Of Biological Chemistry
Wang, Wuyang W; Linsdell, Paul P
Publication Date: 2012-03-23

Variant appearance in text: CFTR: L333C
PubMed Link: 22303012
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.

Biochemistry
Alexander, Christopher C; Ivetac, Anthony A; Liu, Xuehong X; Norimatsu, Yohei Y; Serrano, Jose R JR; Landstrom, Allison A; Sansom, Mark M; Dawson, David C DC
Publication Date: 2009-10-27

Variant appearance in text: CFTR: L333C
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
  • bi901314c_si_001.pdf
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: L333C
PubMed Link: 9089437
Variant Present in the following documents:
  • Main text
  • 7357.pdf
View BVdb publication page