CFTR c.1291A>G ;(p.S431G)

Variant ID: 7-117188776-A-G

NM_000492.3(CFTR):c.1291A>G;(p.S431G)

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: rs772853317
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Identification of second primary tumors from lung metastases in patients with esophageal squamous cell carcinoma using whole-exome sequencing.

Theranostics
Xue, Liyan L; Li, Weihua W; Fan, Xinyi X; Zhao, Zitong Z; Zhou, Wei W; Feng, Zhimin Z; Liu, Linxiu L; Lin, Hua H; Li, Lin L; Xue, Xuemin X; Huang, Xuanlin X; Huang, Peide P; Guo, Jia J; Du, Peina P; Lu, Ning N; Li, Lin L; Zhan, Qimin Q; Song, Yongmei Y
Publication Date: 2020

Variant appearance in text: CFTR: 1291A>G; Ser431Gly
PubMed Link: 32929369
Variant Present in the following documents:
  • thnov10p10606s2.xls, sheet 3
View BVdb publication page



Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

American Journal Of Respiratory And Critical Care Medicine
Wilschanski, Michael M; Dupuis, Annie A; Ellis, Lynda L; Jarvi, Keith K; Zielenski, Julian J; Tullis, Elizabeth E; Martin, Sheelagh S; Corey, Mary M; Tsui, Lap-Chee LC; Durie, Peter P
Publication Date: 2006-10-01

Variant appearance in text: CFTR: S431G
PubMed Link: 16840743
Variant Present in the following documents:
  • Main text
View BVdb publication page