CFTR c.1795A>G ;(p.T599A)

Variant ID: 7-117232016-A-G

NM_000492.3(CFTR):c.1795A>G;(p.T599A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: CFTR: 1795A>G; Thr599Ala
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: CFTR: 1795A>G; T599A
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Regulation of the epithelial Na+ channel by the protein kinase CK2.

The Journal Of Biological Chemistry
Bachhuber, Tanja T; AlmaƧa, Joana J; Aldehni, Fadi F; Mehta, Anil A; Amaral, Margarida D MD; Schreiber, Rainer R; Kunzelmann, Karl K
Publication Date: 2008-05-09

Variant appearance in text: CFTR: T599A
PubMed Link: 18308722
Variant Present in the following documents:
  • Main text
  • 13225.pdf
View BVdb publication page