CFTR c.2280G>A ;(p.T760=)

Variant ID: 7-117232501-G-A

NM_000492.3(CFTR):c.2280G>A;(p.T760=)

This variant was identified in 6 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: rs138634146
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Rauscher, Robert R; Bampi, Giovana B GB; Guevara-Ferrer, Marta M; Santos, Leonardo A LA; Joshi, Disha D; Mark, David D; Strug, Lisa J LJ; Rommens, Johanna M JM; Ballmann, Manfred M; Sorscher, Eric J EJ; Oliver, Kathryn E KE; Ignatova, Zoya Z
Publication Date: 2021-01-26

Variant appearance in text: CFTR: 2280G>A
PubMed Link: 33468668
Variant Present in the following documents:
  • Main text
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: 2280G>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: rs138634146
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
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: rs138634146
PubMed Link: 28536625
Variant Present in the following documents:
  • 11658_2016_25_MOESM3_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM6_ESM.xlsx, sheet 1
  • 11658_2016_25_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page