CFTR c.2805A>G ;(p.L935=)

Variant ID: 7-117243733-A-G

NM_000492.3(CFTR):c.2805A>G;(p.L935=)

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: rs368967922
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: rs368967922
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
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: CFTR: 2805A>G
PubMed Link: 28536625
Variant Present in the following documents:
  • Main text
  • 11658_2016_25_MOESM2_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM6_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM3_ESM.xlsx, sheet 1
  • 11658_2016_Article_25.pdf
View BVdb publication page