CFTR c.3178A>G ;(p.K1060E)

Variant ID: 7-117251673-A-G

NM_000492.3(CFTR):c.3178A>G;(p.K1060E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: CFTR: K1060E
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: CFTR: K1060E
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
View BVdb publication page



An electrostatic interaction at the tetrahelix bundle promotes phosphorylation-dependent cystic fibrosis transmembrane conductance regulator (CFTR) channel opening.

The Journal Of Biological Chemistry
Wang, Wei W; Roessler, Bryan C BC; Kirk, Kevin L KL
Publication Date: 2014-10-31

Variant appearance in text: CFTR: K1060E
PubMed Link: 25190805
Variant Present in the following documents:
  • Main text
View BVdb publication page