CFTR c.3353C>G ;(p.S1118C)

Variant ID: 7-117251848-C-G

NM_000492.3(CFTR):c.3353C>G;(p.S1118C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics
Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W
Publication Date: 2021-11-05

Variant appearance in text: rs146521846
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs146521846
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
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: S1118C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page



Relative movements of transmembrane regions at the outer mouth of the cystic fibrosis transmembrane conductance regulator channel pore during channel gating.

The Journal Of Biological Chemistry
Wang, Wuyang W; Linsdell, Paul P
Publication Date: 2012-09-14

Variant appearance in text: CFTR: S1118C
PubMed Link: 22843683
Variant Present in the following documents:
  • Main text
View BVdb publication page