Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.R235L
Back to variants list

STXBP2

NM_006949.4:p.R235L

Associated Papers

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.

Viñas-Giménez L et al.

International Journal of Hematology, 2020

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Viñas-Giménez L et al.

Frontiers in Immunology, 2020

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."