CFTR c.3530A>G ;(p.K1177R)

Variant ID: 7-117267637-A-G

NM_000492.3(CFTR):c.3530A>G;(p.K1177R)

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: rs777765549
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

Molecular Genetics & Genomic Medicine
Ortiz, Sofía C SC; Aguirre, Santiago J SJ; Flores, Sofía S; Maldonado, Claudio C; Mejía, Juan J; Salinas, Lilian L
Publication Date: 2017-11

Variant appearance in text: CFTR: K1177R
PubMed Link: 29178639
Variant Present in the following documents:
  • Main text
  • MGG3-5-751.pdf
View BVdb publication page