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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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