CFTR c.742_743delinsCA ;(p.R248Q)

Variant ID: 7-117175464-AG-CA

NM_000492.3(CFTR):c.742_743delinsCA;(p.R248Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pancreatic cancer prognosis is predicted by an ATAC-array technology for assessing chromatin accessibility.

Nature Communications
Dhara, S S; Chhangawala, S S; Chintalapudi, H H; Askan, G G; Aveson, V V; Massa, A L AL; Zhang, L L; Torres, D D; Makohon-Moore, A P AP; Lecomte, N N; Melchor, J P JP; Bermeo, J J; Cardenas, A A; Sinha, S S; Glassman, D D; Nicolle, R R; Moffitt, R R; Yu, K H KH; Leppanen, S S; Laderman, S S; Curry, B B; Gui, J J; Balachandran, V P VP; Iacobuzio-Donahue, C C; Chandwani, R R; Leslie, C S CS; Leach, S D SD
Publication Date: 2021-05-24

Variant appearance in text: CFTR: R248Q
PubMed Link: 34031415
Variant Present in the following documents:
  • 41467_2021_23237_MOESM1_ESM.pdf
View BVdb publication page



Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: R248Q
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page



Functional organization of cytoplasmic portals controlling access to the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel pore.

The Journal Of Biological Chemistry
Li, Man-Song MS; Cowley, Elizabeth A EA; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2018-04-13

Variant appearance in text: CFTR: R248Q
PubMed Link: 29475947
Variant Present in the following documents:
  • Main text
View BVdb publication page