Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.K84R
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TARDBP

NM_007375.4:p.K84R

Associated Papers

High-throughput mutagenesis identifies mutations and RNA-binding proteins controlling CD19 splicing and CART-19 therapy resistance.

Cortés-López M et al.

Nature Communications, 2022

36138008 (PubMed )
Supplement: 41467_2022_31818_MOESM9_ESM.xlsx › DeepRiPe_mutations

Recognition of the TDP-43 nuclear localization signal by importin α1/β.

Doll SG et al.

Cell Reports, 2022

Sirtuin-1 sensitive lysine-136 acetylation drives phase separation and pathological aggregation of TDP-43.

Garcia Morato J et al.

Nature Communications, 2022

Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD.

Khosravi B et al.

The Embo Journal, 2020

32175624 (PubMed )
Supplement: EMBJ-39-e102811-s008.xlsx › Fig6D

Identification and characterization of ubiquitinylation sites in TAR DNA-binding protein of 43 kDa (TDP-43).

Hans F et al.

The Journal of Biological Chemistry, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."