CFTR c.2252G>C ;(p.R751P)

Variant ID: 7-117232473-G-C

NM_000492.3(CFTR):c.2252G>C;(p.R751P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs397508357
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M
Publication Date: 2021-02-01

Variant appearance in text: CFTR: R751P
PubMed Link: 33296276
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M
Publication Date: 2021-02-01

Variant appearance in text: CFTR: R751P
PubMed Link: 33296276
Variant Present in the following documents:
  • Main text
View BVdb publication page



A posttranslational modification code for CFTR maturation is altered in cystic fibrosis.

Science Signaling
Pankow, Sandra S; Bamberger, Casimir C; Yates, John R JR
Publication Date: 2019-01-01

Variant appearance in text: CFTR: R751P
PubMed Link: 30600261
Variant Present in the following documents:
  • Main text
View BVdb publication page