CFTR c.967_968delinsTG ;(p.L323C)

Variant ID: 7-117180251-CT-TG

NM_000492.3(CFTR):c.967_968delinsTG;(p.L323C)

This variant was identified in 2 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: L323C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
  • JGP_201711946_TableS1.pdf
View BVdb publication page



The Fifth Transmembrane Segment of Cystic Fibrosis Transmembrane Conductance Regulator Contributes to Its Anion Permeation Pathway.

Biochemistry
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2015-06-23

Variant appearance in text: CFTR: L323C
PubMed Link: 26024338
Variant Present in the following documents:
  • Main text
View BVdb publication page