CFTR c.2679G>T ;(p.G893=)

Variant ID: 7-117243607-G-T

NM_000492.3(CFTR):c.2679G>T;(p.G893=)

This variant was identified in 5 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: rs397508419
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics
Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N
Publication Date: 2020-10

Variant appearance in text: CFTR: 2679G>T
PubMed Link: 33085659
Variant Present in the following documents:
  • Main text
  • pgen.1009100.pdf
View BVdb publication page



Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Cellular & Molecular Biology Letters
Bartoszewski, Rafal R; Króliczewski, Jaroslaw J; Piotrowski, Arkadiusz A; Jasiecka, Anna Janaszak AJ; Bartoszewska, Sylwia S; Vecchio-Pagan, Briana B; Fu, Lianwu L; Sobolewska, Aleksandra A; Matalon, Sadis S; Cutting, Garry R GR; Rowe, Steven M SM; Collawn, James F JF
Publication Date: 2016

Variant appearance in text: rs397508419
PubMed Link: 28536625
Variant Present in the following documents:
  • 11658_2016_25_MOESM6_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM3_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The cystic fibrosis gene: a molecular genetic perspective.

Cold Spring Harbor Perspectives In Medicine
Tsui, Lap-Chee LC; Dorfman, Ruslan R
Publication Date: 2013-02-01

Variant appearance in text: CFTR: 2679G>T; Gly893Gly
PubMed Link: 23378595
Variant Present in the following documents:
  • Main text
View BVdb publication page



A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.

The Journal Of Molecular Diagnostics : Jmd
Faa', Valeria V; Coiana, Alessandra A; Incani, Federica F; Costantino, Lucy L; Cao, Antonio A; Rosatelli, Maria Cristina MC
Publication Date: 2010-05

Variant appearance in text: CFTR: Gly893Gly
PubMed Link: 20190016
Variant Present in the following documents:
  • Main text
View BVdb publication page