Varaico: Literature-Extracted Genetic Variants

Gene:ASCC1
Variant:p.N290S
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ASCC1

NM_001198800.3:p.N290S

Associated Papers

ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase.

Chinnam NB et al.

The Journal of Biological Chemistry, 2024

Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.

Tang J et al.

Genes, 2022

36553485 (PubMed )
Supplement: genes-13-02218-s001.zip › Supplemental_tables.xlsx › S2

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM2_ESM.xlsx › Table_S5

A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis.

Torices S et al.

Journal of Immunology (baltimore, Md. : 1950), 2015

Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.

Orloff M et al.

Jama, 2011

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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."