Varaico: Literature-Extracted Genetic Variants

Gene:PKD2L1
Variant:p.T543A
Back to variants list

PKD2L1

NM_016112.3:p.T543A

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

Energetic landscape of polycystin channel gating.

Ng LC et al.

Embo Reports, 2023

37158562 (PubMed )
Supplement: EMBR-24-e56783-s001.zip › EMBR202356783-sup-0008-SDataFig4 › EMBOR-2023-56783V3-Figure_Source_Data_4B-sd.zip › Source_Data_Ng_2023_Figure_4B.xlsx › FIGURE_4B

Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses.

Pacheco Y et al.

Cells, 2021

34440765 (PubMed )
Supplement: cells-10-01995-s001.zip › Table_S1_-_Pacheco_and_al_-_Manuscript_ID_CELLS_1218790.xlsx › Feuil1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 794.308
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."