Varaico: Literature-Extracted Genetic Variants

Gene:SEL1L
Variant:p.M528R
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SEL1L

NM_005065.6:p.M528R

Associated Papers

SEL1L-HRD1-mediated ERAD in mammals.

Wang HH et al.

Nature Cell Biology, 2025

E3 ubiquitin ligase SYVN1 as a promising therapeutic target for diverse human diseases.

Zhu L et al.

Pharmacological Research, 2025

Purkinje cell-specific deficiency in SEL1L-hrd1 endoplasmic reticulum-associated degradation causes progressive cerebellar ataxia in mice.

Torres M et al.

Jci Insight, 2024

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

Wang HH et al.

The Journal of Clinical Investigation, 2024

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.

Weis D et al.

The Journal of Clinical Investigation, 2024

Hypomorphic human SEL1L and HRD1 variants uncouple multilayered ER-associated degradation machinery.

Umphred-Wilson K et al.

The Journal of Clinical Investigation, 2024

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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."