CFTR c.4204_4205delinsAG ;(p.H1402S)

Variant ID: 7-117305580-CA-AG

NM_000492.3(CFTR):c.4204_4205delinsAG;(p.H1402S)

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: H1402S
PubMed Link: 33534640
Variant Present in the following documents:
  • Main text
  • mbc-32-538.pdf
View BVdb publication page



Structural stability of purified human CFTR is systematically improved by mutations in nucleotide binding domain 1.

Biochimica Et Biophysica Acta. Biomembranes
Yang, Zhengrong Z; Hildebrandt, Ellen E; Jiang, Fan F; Aleksandrov, Andrei A AA; Khazanov, Netaly N; Zhou, Qingxian Q; An, Jianli J; Mezzell, Andrew T AT; Xavier, Bala M BM; Ding, Haitao H; Riordan, John R JR; Senderowitz, Hanoch H; Kappes, John C JC; Brouillette, Christie G CG; Urbatsch, Ina L IL
Publication Date: 2018-05

Variant appearance in text: CFTR: H1402S
PubMed Link: 29425673
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thermal stability of purified and reconstituted CFTR in a locked open channel conformation.

Protein Expression And Purification
Aleksandrov, Luba A LA; Jensen, Timothy J TJ; Cui, Liying L; Kousouros, Joseph N JN; He, Lihua L; Aleksandrov, Andrei A AA; Riordan, John R JR
Publication Date: 2015-12

Variant appearance in text: CFTR: H1402S
PubMed Link: 26384709
Variant Present in the following documents:
  • Main text
View BVdb publication page