CFTR c.1517T>G ;(p.I506S)

Variant ID: 7-117199642-T-G

NM_000492.3(CFTR):c.1517T>G;(p.I506S)

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: rs397508224
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs397508224
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran.

Iranian Journal Of Basic Medical Sciences
Mehdizadeh Hakkak, Atieh A; Keramatipour, Mohammad M; Talebi, Saeid S; Brook, Azam A; Tavakol Afshari, Jalil J; Raazi, Amin A; Kianifar, Hamid Reza HR
Publication Date: 2013-08

Variant appearance in text: CFTR: I506S
PubMed Link: 24106596
Variant Present in the following documents:
  • ijbms-16-917.pdf
View BVdb publication page