Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A1
Variant:p.G442V
Back to variants list

SEC61A1

NM_013336.4:p.G442V

Associated Papers

Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.

Van Nieuwenhove E et al.

The Journal of Allergy and Clinical Immunology, 2020

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).

Schubert D et al.

The Journal of Allergy and Clinical Immunology, 2018

Defects in plasma cell differentiation are associated with primary immunodeficiency in human subjects.

Pan-Hammarström Q et al.

The Journal of Allergy and Clinical Immunology, 2018

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."