Varaico: Literature-Extracted Genetic Variants

Gene:SEL1L
Variant:p.S658P
Back to variants list

SEL1L

NM_005065.6:p.S658P

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

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

Lin LL et al.

Nature Communications, 2026

Functional integrity of the SEL1L-HRD1 complex is critical for ERAD and organismal viability.

Zhang X et al.

Biorxiv : the Preprint Server for Biology, 2025

SEL1L-HRD1-mediated ERAD in mammals.

Wang HH et al.

Nature Cell Biology, 2025

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

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

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

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

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

Umphred-Wilson K 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

Unraveling the roles of endoplasmic reticulum-associated degradation in metabolic disorders.

Luo H et al.

Frontiers in Endocrinology, 2023

Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids.

Wu W et al.

Hepatology (baltimore, Md.), 2016

Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.

Donner J et al.

Plos One, 2016

SEL1L SNP rs12435998, a predictor of glioblastoma survival and response to radio-chemotherapy.

Mellai M et al.

Oncotarget, 2015

A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.

Kyöstilä K et al.

Plos Genetics, 2012

DNA testing in neurologic diseases.

O'Brien DP et al.

Journal of Veterinary Internal Medicine, 0

Phenotypic and genetic aspects of hereditary ataxia in dogs.

Stee K et al.

Journal of Veterinary Internal Medicine, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."