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HP c.1134T>A ;(p.D378E)
Variant ID: 16-72094702-T-A
NM_005143.3(
HP
):c.1134T>A;(p.D378E)
This variant was identified in 3 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: HP: D378E
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: HP: D378E
PubMed Link:
34673281
Variant Present in the following documents:
mmc2.xlsx, sheet 11
View BVdb publication page
Differential mechanisms of tolerance to extreme environmental conditions in tardigrades.
Scientific Reports
Carrero, Dido D; Pérez-Silva, José G JG; Quesada, Víctor V; López-Otín, Carlos C
Publication Date: 2019-10-17
Variant appearance in text: HP: D378E
PubMed Link:
31624306
Variant Present in the following documents:
41598_2019_51471_MOESM1_ESM.pdf
View BVdb publication page
Regulation of K+ flow by a ring of negative charges in the outer pore of BKCa channels. Part II: Neutralization of aspartate 292 reduces long channel openings and gating current slow component.
The Journal Of General Physiology
Haug, Trude T; Olcese, Riccardo R; Toro, Ligia L; Stefani, Enrico E
Publication Date: 2004-08
Variant appearance in text: HP: D378E
PubMed Link:
15277579
Variant Present in the following documents:
Main text
200308950.pdf
View BVdb publication page