Varaico: Literature-Extracted Genetic Variants

Gene:SEL1L
Variant:p.G57S
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SEL1L

NM_005065.6:p.G57S

Associated Papers

Functional integrity of the SEL1L-HRD1 complex is critical for endoplasmic reticulum-associated degradation and organismal viability.

Zhang X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2026

SEL1L-HRD1 interaction is required to form a functional HRD1 ERAD complex.

Lin LL et al.

Nature Communications, 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

SEL1L-HRD1 interaction is prerequisite for the formation of a functional HRD1 ERAD complex.

Lin LL et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Xu L et al.

Nature Cell Biology, 2020

32958856 (PubMed )
Supplement: NIHMS1622648-supplement-1622648_Unprocessed_SourceData_ExtData_Fig9.pdf
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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."