CFTR c.1521C>T ;(p.I507=)

Variant ID: 7-117199646-C-T

NM_000492.3(CFTR):c.1521C>T;(p.I507=)

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: CFTR: I507I
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
View BVdb publication page



Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.

Endocrine Pathology
Sromek, Maria M; Czetwertyńska, Małgorzata M; Tarasińska, Magdalena M; Janiec-Jankowska, Aneta A; Zub, Renata R; Ćwikła, Maria M; Nowakowska, Dorota D; Chechlińska, Magdalena M
Publication Date: 2017-09

Variant appearance in text: CFTR: Ile507Ile
PubMed Link: 28647780
Variant Present in the following documents:
  • Main text
  • 12022_2017_Article_9487.pdf
View BVdb publication page



Synonymous codon usage affects the expression of wild type and F508del CFTR.

Journal Of Molecular Biology
Shah, Kalpit K; Cheng, Yi Y; Hahn, Brian B; Bridges, Robert R; Bradbury, Neil A NA; Mueller, David M DM
Publication Date: 2015-03-27

Variant appearance in text: CFTR: 1521C>T
PubMed Link: 25676312
Variant Present in the following documents:
  • Main text
View BVdb publication page