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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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