CFTR c.927C>G ;(p.A309=)

Variant ID: 7-117180211-C-G

NM_000492.3(CFTR):c.927C>G;(p.A309=)

This variant was identified in 7 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: rs1800084
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress.

International Journal Of Molecular Sciences
Putscher, Elena E; Hecker, Michael M; Fitzner, Brit B; Lorenz, Peter P; Zettl, Uwe Klaus UK
Publication Date: 2021-05-13

Variant appearance in text: rs1800084
PubMed Link: 34068052
Variant Present in the following documents:
  • Main text
  • ijms-22-05154.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: CFTR: 927C>G
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
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: rs1800084
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



Association of CFTR gene mutation with bronchial asthma.

The Indian Journal Of Medical Research
Maurya, Nutan N; Awasthi, Shally S; Dixit, Pratibha P
Publication Date: 2012-04

Variant appearance in text: CFTR: A309A
PubMed Link: 22664493
Variant Present in the following documents:
  • Main text
  • IJMR-135-469.pdf
View BVdb publication page



Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Scott, Alexandra A; Petrykowska, Hanna M HM; Hefferon, Timothy T; Gotea, Valer V; Elnitski, Laura L
Publication Date: 2012-12

Variant appearance in text: CFTR: 927C>G; rs1800084
PubMed Link: 22591852
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea.

Yonsei Medical Journal
Kim, Kyung Won KW; Lee, Ji Hyun JH; Lee, Min Goo MG; Kim, Kyung Hwan KH; Sohn, Myung Hyun MH; Kim, Kyu-Earn KE
Publication Date: 2010-11

Variant appearance in text: CFTR: A309A
PubMed Link: 20879059
Variant Present in the following documents:
  • ymj-51-912.pdf
View BVdb publication page