Varaico: Literature-Extracted Genetic Variants

Gene:SYVN1
Variant:p.D98E
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SYVN1

NM_172230.3:p.D98E

Associated Papers

Structural basis and pathological implications of the dimeric OS9-SEL1L-HRD1 ERAD Core Complex.

Lin LL et al.

Nature Communications, 2026

Ubiquitination by HRD1 is essential for TLR3 trafficking and its innate immune signaling.

Zhao L et al.

Nature Communications, 2025

Structural basis and pathological implications of the dimeric OS9-SEL1L-HRD1 ERAD Core Complex.

Lin LL et al.

Biorxiv : the Preprint Server for Biology, 2025

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.

Wang HH et al.

The Journal of Clinical Investigation, 2024

Protein quality control through endoplasmic reticulum-associated degradation maintains haematopoietic stem cell identity and niche interactions.

Xu L et al.

Nature Cell Biology, 2020

Hypothalamic ER-associated degradation regulates POMC maturation, feeding, and age-associated obesity.

Kim GH et al.

The Journal of Clinical Investigation, 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."