TARDBP c.1150G>C ;(p.G384R)

Variant ID: 1-11082616-G-C

NM_007375.3(TARDBP):c.1150G>C;(p.G384R)

This variant was identified in 7 publications

View GRCh38 version.



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

Publications:

Emerging Roles for Phase Separation of RNA-Binding Proteins in Cellular Pathology of ALS.

Frontiers In Cell And Developmental Biology
Milicevic, Katarina K; Rankovic, Branislava B; Andjus, Pavle R PR; Bataveljic, Danijela D; Milovanovic, Dragomir D
Publication Date: 2022

Variant appearance in text: TDP-43: G384R
PubMed Link: 35372329
Variant Present in the following documents:
  • Main text
  • fcell-10-840256.pdf
View BVdb publication page


Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: TARDBP: G384R; rs797044594
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 3
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 5
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


Cryo-EM structure of amyloid fibrils formed by the entire low complexity domain of TDP-43.

Nature Communications
Li, Qiuye Q; Babinchak, W Michael WM; Surewicz, Witold K WK
Publication Date: 2021-03-12

Variant appearance in text: TDP-43: G384R
PubMed Link: 33712624
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21912.pdf
View BVdb publication page


The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Brain : A Journal Of Neurology
Hergesheimer, Rudolf C RC; Chami, Anna A AA; de Assis, Denis Reis DR; Vourc'h, Patrick P; Andres, Christian R CR; Corcia, Philippe P; Lanznaster, Débora D; Blasco, Hélène H
Publication Date: 2019-05-01

Variant appearance in text: TDP-43: G384R
PubMed Link: 30938443
Variant Present in the following documents:
  • awz078_supplementary_data.pdf
View BVdb publication page


ALS Mutations Disrupt Phase Separation Mediated by α-Helical Structure in the TDP-43 Low-Complexity C-Terminal Domain.

Structure (London, England : 1993)
Conicella, Alexander E AE; Zerze, Gül H GH; Mittal, Jeetain J; Fawzi, Nicolas L NL
Publication Date: 2016-09-06

Variant appearance in text: TDP-43: G384R
PubMed Link: 27545621
Variant Present in the following documents:
  • Main text
View BVdb publication page


RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord.

Plos One
Brohawn, David G DG; O'Brien, Laura C LC; Bennett, James P JP
Publication Date: 2016

Variant appearance in text: TARDBP: G384R
PubMed Link: 27487029
Variant Present in the following documents:
  • pone.0160520.s017.xlsx, sheet 1
View BVdb publication page


FTD and ALS: a tale of two diseases.

Current Alzheimer Research
Ferrari, R R; Kapogiannis, D D; Huey, E D ED; Momeni, P P
Publication Date: 2011-05

Variant appearance in text: TDP-43: G384R
PubMed Link: 21222600
Variant Present in the following documents:
  • Main text
View BVdb publication page