CFTR c.311G>C ;(p.R104T)

Variant ID: 7-117170990-G-C

NM_000492.3(CFTR):c.311G>C;(p.R104T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: CFTR: 311G>C; R104T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



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: R104T
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: CFTR: R104T
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CFTR: R104T
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Whole-genome resequencing analyses of five pig breeds, including Korean wild and native, and three European origin breeds.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
Choi, Jung-Woo JW; Chung, Won-Hyong WH; Lee, Kyung-Tai KT; Cho, Eun-Seok ES; Lee, Si-Woo SW; Choi, Bong-Hwan BH; Lee, Sang-Heon SH; Lim, Wonjun W; Lim, Dajeong D; Lee, Yun-Gyeong YG; Hong, Joon-Ki JK; Kim, Doo-Wan DW; Jeon, Hyeon-Jeong HJ; Kim, Jiwoong J; Kim, Namshin N; Kim, Tae-Hun TH
Publication Date: 2015-08

Variant appearance in text: CFTR/MRP: R104T
PubMed Link: 26117497
Variant Present in the following documents:
  • supp_dsv011_dsv011supp_table2.xlsx, sheet 2
View BVdb publication page