CFTR c.3920A>G ;(p.Y1307C)

Variant ID: 7-117292942-A-G

NM_000492.3(CFTR):c.3920A>G;(p.Y1307C)

This variant was identified in 3 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: Y1307C
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: Y1307C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page



Multiple membrane-cytoplasmic domain contacts in the cystic fibrosis transmembrane conductance regulator (CFTR) mediate regulation of channel gating.

The Journal Of Biological Chemistry
He, Lihua L; Aleksandrov, Andrei A AA; Serohijos, Adrian W R AW; Hegedus, Tamás T; Aleksandrov, Luba A LA; Cui, Liying L; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2008-09-26

Variant appearance in text: CFTR: Y1307C
PubMed Link: 18658148
Variant Present in the following documents:
  • Main text
View BVdb publication page