CFTR c.2253C>T ;(p.R751=)

Variant ID: 7-117232474-C-T

NM_000492.3(CFTR):c.2253C>T;(p.R751=)

This variant was identified in 2 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: rs760893687
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Experimental and bioinformatics considerations in cancer application of single cell genomics.

Computational And Structural Biotechnology Journal
Tan, Joanna Hui Juan JHJ; Kong, Say Li SL; Tai, Joyce A JA; Poh, Huay Mei HM; Yao, Fei F; Sia, Yee Yen YY; Lim, Edwin Kok Hao EKH; Takano, Angela Maria AM; Tan, Daniel Shao-Weng DS; Javed, Asif A; Hillmer, Axel M AM
Publication Date: 2021

Variant appearance in text: CFTR: R751R
PubMed Link: 33489004
Variant Present in the following documents:
  • mmc4.xlsx, sheet 12
  • mmc3.xlsx, sheet 12
View BVdb publication page