CFTR c.323C>T ;(p.S108F)

Variant ID: 7-117171002-C-T

NM_000492.3(CFTR):c.323C>T;(p.S108F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic characterization of metastatic ultra-hypermutated interdigitating dendritic cell sarcoma through rapid research autopsy.

Oncotarget
Chen, Hui-Zi HZ; Bonneville, Russell R; Yu, Lianbo L; Wing, Michele R MR; Reeser, Julie W JW; Krook, Melanie A MA; Miya, Jharna J; Samorodnitsky, Eric E; Smith, Amy A; Martin, Dorrelyn D; Dao, Thuy T; Guo, Qishan Q; Liebner, David D; Freud, Aharon G AG; Allenby, Patricia P; Roychowdhury, Sameek S
Publication Date: 2019-01-08

Variant appearance in text: CFTR: S108F; rs397508520
PubMed Link: 30719225
Variant Present in the following documents:
  • oncotarget-10-277-s002.xlsx, sheet 7
  • oncotarget-10-277-s002.xlsx, sheet 1
  • oncotarget-10-277-s002.xlsx, sheet 6
  • oncotarget-10-277-s002.xlsx, sheet 4
  • oncotarget-10-277-s002.xlsx, sheet 5
  • oncotarget-10-277-s006.xlsx, sheet 10
  • oncotarget-10-277-s002.xlsx, sheet 8
  • oncotarget-10-277-s002.xlsx, sheet 10
  • oncotarget-10-277-s002.xlsx, sheet 2
  • oncotarget-10-277-s002.xlsx, sheet 9
  • oncotarget-10-277-s002.xlsx, sheet 3
View BVdb publication page



Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.

The Journal Of General Physiology
Cui, Guiying G; Rahman, Kazi S KS; Infield, Daniel T DT; Kuang, Christopher C; Prince, Chengyu Z CZ; McCarty, Nael A NA
Publication Date: 2014-08

Variant appearance in text: CFTR: S108F
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • JGP_201311122.pdf
View BVdb publication page



Effect of genistein on native epithelial tissue from normal individuals and CF patients and on ion channels expressed in Xenopus oocytes.

British Journal Of Pharmacology
Mall, M M; Wissner, A A; Seydewitz, H H HH; Hübner, M M; Kuehr, J J; Brandis, M M; Greger, R R; Kunzelmann, K K
Publication Date: 2000-08

Variant appearance in text: CFTR: S108F
PubMed Link: 10952679
Variant Present in the following documents:
  • Main text
View BVdb publication page