Varaico: Literature-Extracted Genetic Variants

Gene:SUN1
Variant:p.T549M
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SUN1

NM_001130965.3:p.T549M

Associated Papers

Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.

Li J et al.

Frontiers in Immunology, 2025

40519929 (PubMed )
Supplement: Table2.xlsx › info_analysis

Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma.

Kapur P et al.

Jci Insight, 2024

38775158 (PubMed )
Supplement: jciinsight-9-176743-s288.xlsx › Table_S5

A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts.

Upadhyay KK et al.

Journal of Hepatology, 2023

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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."