DMD c.1450G>A ;(p.E484K)

Variant ID: X-32632452-C-T

NM_004006.2(DMD):c.1450G>A;(p.E484K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Applications of Molecular Dynamics Simulation in Protein Study.

Membranes
Sinha, Siddharth S; Tam, Benjamin B; Wang, San Ming SM
Publication Date: 2022-08-29

Variant appearance in text: DMD: E484K
PubMed Link: 36135863
Variant Present in the following documents:
  • Main text
  • membranes-12-00844.pdf
View BVdb publication page



Understanding the Driving Forces That Trigger Mutations in SARS-CoV-2: Mutational Energetics and the Role of Arginine Blockers in COVID-19 Therapy.

Viruses
Ridgway, Harry H; Chasapis, Christos T CT; Kelaidonis, Konstantinos K; Ligielli, Irene I; Moore, Graham J GJ; Gadanec, Laura Kate LK; Zulli, Anthony A; Apostolopoulos, Vasso V; Mavromoustakos, Thomas T; Matsoukas, John M JM
Publication Date: 2022-05-11

Variant appearance in text: DMD: E484K
PubMed Link: 35632769
Variant Present in the following documents:
  • Main text
  • viruses-14-01029.pdf
View BVdb publication page



Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.

Blood Advances
Witte, Hanno M HM; Künstner, Axel A; Hertel, Nadine N; Bernd, Heinz-Wolfram HW; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; von Bubnoff, Nikolas N; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-01-25

Variant appearance in text: DMD: E484K
PubMed Link: 34714908
Variant Present in the following documents:
  • advancesADV2021005486-suppl6.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: DMD: E484K
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: DMD: E484K
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
View BVdb publication page