Varaico: Literature-Extracted Genetic Variants

Gene:SEL1L
Variant:p.C141Y
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SEL1L

NM_005065.6:p.C141Y

Associated Papers

Neuronal SEL1L-HRD1 ER-associated degradation is essential for motor function and survival in mice.

Torres M et al.

The Journal of Clinical Investigation, 2026

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

Zhao L et al.

Nature Communications, 2025

41372171 (PubMed )
Supplement: 41467_2025_67219_MOESM3_ESM.pdf

A molecular switch in NAC prevents mitochondrial protein mistargeting by SRP.

Maldosevic E et al.

Biorxiv : the Preprint Server for Biology, 2025

SEL1L-HRD1-mediated ERAD in mammals.

Wang HH et al.

Nature Cell Biology, 2025

Functional rescue of a fatal ERAD mutation via alternative splicing.

Wang HH et al.

Biorxiv : the Preprint Server for Biology, 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

Regulation of leptin signaling and diet-induced obesity by SEL1L-HRD1 ER-associated degradation in POMC expressing neurons.

Mao H et al.

Nature Communications, 2024

39343970 (PubMed )
Supplement: 41467_2024_52743_MOESM3_ESM.pdf

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."