CFTR c.1055_1056delinsAT ;(p.R352H)

Variant ID: 7-117180339-GG-AT

NM_000492.3(CFTR):c.1055_1056delinsAT;(p.R352H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: CFTR: Arg352His
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.

Biochemistry
Alexander, Christopher C; Ivetac, Anthony A; Liu, Xuehong X; Norimatsu, Yohei Y; Serrano, Jose R JR; Landstrom, Allison A; Sansom, Mark M; Dawson, David C DC
Publication Date: 2009-10-27

Variant appearance in text: CFTR: R352H
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
View BVdb publication page



CFTR: covalent and noncovalent modification suggests a role for fixed charges in anion conduction.

The Journal Of General Physiology
Smith, S S SS; Liu, X X; Zhang, Z R ZR; Sun, F F; Kriewall, T E TE; McCarty, N A NA; Dawson, D C DC
Publication Date: 2001-10

Variant appearance in text: CFTR: R352H
PubMed Link: 11585852
Variant Present in the following documents:
  • Main text
  • 8480.pdf
View BVdb publication page