Varaico: Literature-Extracted Genetic Variants

Gene:LRRK1
Variant:p.L416M
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LRRK1

NM_024652.6:p.L416M

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Petrin AL et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025

Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.

Petrin AL et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

Characterization of DNA variants in the human kinome in breast cancer.

Agarwal D et al.

Scientific Reports, 2015

26420498 (PubMed )
Supplement: srep14736-s3.xls › HFI_Unique

Rare variants in LRRK1 and Parkinson's disease.

Schulte EC et al.

Neurogenetics, 2014

Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.

Dachsel JC et al.

Mechanisms of Ageing and Development, 2010

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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."