CFTR c.2433G>T ;(p.R811S)

Variant ID: 7-117232654-G-T

NM_000492.3(CFTR):c.2433G>T;(p.R811S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis.

Cancer Discovery
Schaettler, Maximilian O MO; Richters, Megan M MM; Wang, Anthony Z AZ; Skidmore, Zachary L ZL; Fisk, Bryan B; Miller, Katherine E KE; Vickery, Tammi L TL; Kim, Albert H AH; Chicoine, Michael R MR; Osbun, Joshua W JW; Leuthardt, Eric C EC; Dowling, Joshua L JL; Zipfel, Gregory J GJ; Dacey, Ralph G RG; Lu, Hsiang-Chih HC; Johanns, Tanner M TM; Griffith, Obi L OL; Mardis, Elaine R ER; Griffith, Malachi M; Dunn, Gavin P GP
Publication Date: 2022-01

Variant appearance in text: CFTR: 2433G>T; Arg811Ser
PubMed Link: 34610950
Variant Present in the following documents:
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 14
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 16
  • cd-21-0291_supplementary_table_3_suppst3.xlsx, sheet 16
  • cd-21-0291_supplementary_table_3_suppst3.xlsx, sheet 14
  • cd-21-0291_supplementary_table_3_suppst3.xlsx, sheet 15
  • cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 15
  • cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 16
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 15
  • cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 14
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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: rs778688276
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

The Journal Of Molecular Diagnostics : Jmd
Prach, Lisa L; Koepke, Ruth R; Kharrazi, Martin M; Keiles, Steven S; Salinas, Danieli B DB; Reyes, Maria Carmen MC; Pian, Mark M; Opsimos, Harry H; Otsuka, Kimberly N KN; Hardy, Karen Ann KA; Milla, Carlos E CE; Zirbes, Jacquelyn M JM; Chipps, Bradley B; O'Bra, Susan S; Saeed, Muhammad M MM; Sudhakar, Reddivalam R; Lehto, Susan S; Nielson, Dennis D; Shay, Gregory F GF; Seastrand, Mary M; Jhawar, Sanjay S; Nickerson, Bruce B; Landon, Christopher C; Thompson, Ann A; Nussbaum, Eliezer E; Chin, Terry T; Wojtczak, Henry H; ,
Publication Date: 2013-09

Variant appearance in text: CFTR: 2433G>T; R811S
PubMed Link: 23810505
Variant Present in the following documents:
  • Main text
View BVdb publication page