CFTR c.3142_3144delinsTGT ;(p.R1048C)

Variant ID: 7-117251637-AGG-TGT

NM_000492.3(CFTR):c.3142_3144delinsTGT;(p.R1048C)

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: R1048C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946_TableS1.pdf
  • JGP_201711946.pdf
View BVdb publication page



Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2015-06-19

Variant appearance in text: CFTR: R1048C
PubMed Link: 25944907
Variant Present in the following documents:
  • Main text
View BVdb publication page