CFTR c.1091C>G ;(p.S364C)

Variant ID: 7-117180375-C-G

NM_000492.3(CFTR):c.1091C>G;(p.S364C)

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: S364C
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: CFTR: S364C
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.

The Journal Of Clinical Investigation
Frikke-Schmidt, Ruth R; Nordestgaard, Børge G BG; Jensen, Gorm B GB; Tybjaerg-Hansen, Anne A
Publication Date: 2004-11

Variant appearance in text: CFTR: S364C
PubMed Link: 15520867
Variant Present in the following documents:
  • Main text
View BVdb publication page