CFTR c.828C>T ;(p.C276=)

Variant ID: 7-117176686-C-T

NM_000492.3(CFTR):c.828C>T;(p.C276=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


DNAJB12 and Hsp70 triage arrested intermediates of N1303K-CFTR for endoplasmic reticulum-associated autophagy.

Molecular Biology Of The Cell
He, Lihua L; Kennedy, Andrew S AS; Houck, Scott S; Aleksandrov, Andrei A; Quinney, Nancy L NL; Cyr-Scully, Alexandra A; Cholon, Deborah M DM; Gentzsch, Martina M; Randell, Scott H SH; Ren, Hong Yu HY; Cyr, Douglas M DM
Publication Date: 2021-04-01

Variant appearance in text: CFTR: C276C
PubMed Link: 33534640
Variant Present in the following documents:
  • Main text
  • mbc-32-538.pdf
View BVdb publication page



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: C276C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page