Varaico: Literature-Extracted Genetic Variants

Gene:COL22A1
Variant:p.E736D
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COL22A1

NM_152888.3:p.E736D

Associated Papers

Resolving 'vascular parkinsonism' -COL22A1 as a genetic adult-onset leukoencephalopathy.

Marsili L et al.

Parkinsonism & Related Disorders, 2023

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms.

Ton QV et al.

Disease Models & Mechanisms, 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."