CFTR c.2604A>G ;(p.V868=)

Variant ID: 7-117235097-A-G

NM_000492.3(CFTR):c.2604A>G;(p.V868=)

This variant was identified in 4 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: rs1800105
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress.

International Journal Of Molecular Sciences
Putscher, Elena E; Hecker, Michael M; Fitzner, Brit B; Lorenz, Peter P; Zettl, Uwe Klaus UK
Publication Date: 2021-05-13

Variant appearance in text: rs1800105
PubMed Link: 34068052
Variant Present in the following documents:
  • Main text
  • ijms-22-05154.pdf
View BVdb publication page



Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Cellular & Molecular Biology Letters
Bartoszewski, Rafal R; Króliczewski, Jaroslaw J; Piotrowski, Arkadiusz A; Jasiecka, Anna Janaszak AJ; Bartoszewska, Sylwia S; Vecchio-Pagan, Briana B; Fu, Lianwu L; Sobolewska, Aleksandra A; Matalon, Sadis S; Cutting, Garry R GR; Rowe, Steven M SM; Collawn, James F JF
Publication Date: 2016

Variant appearance in text: rs1800105
PubMed Link: 28536625
Variant Present in the following documents:
  • 11658_2016_25_MOESM6_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM3_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Scott, Alexandra A; Petrykowska, Hanna M HM; Hefferon, Timothy T; Gotea, Valer V; Elnitski, Laura L
Publication Date: 2012-12

Variant appearance in text: CFTR: 2604A>G; rs1800105
PubMed Link: 22591852
Variant Present in the following documents:
  • Main text
View BVdb publication page