Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.D941N
Back to variants list

UNC13D

NM_199242.3:p.D941N

Associated Papers

Type IV Glycogen Storage Disease Associated With Hemophagocytic Lymphohistiocytosis: A Case Report.

Wei A et al.

Journal of Pediatric Hematology/oncology, 2020

A Rare Case of Glycogen Storage Disease Type 1a Presenting with Hemophagocytic Lymphohistiocytosis (HLH).

Saneifard H et al.

Case Reports in Pediatrics, 2020

A Ca2+-stimulated exosome release pathway in cancer cells is regulated by Munc13-4.

Messenger SW et al.

The Journal of Cell Biology, 2018

C2 Domains of Munc13-4 Are Crucial for Ca2+-Dependent Degranulation and Cytotoxicity in NK Cells.

Bin NR et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

A novel Munc13-4/S100A10/annexin A2 complex promotes Weibel-Palade body exocytosis in endothelial cells.

Chehab T et al.

Molecular Biology of the Cell, 2017

28450451 (PubMed )
Supplement: supp_E17-02-0128v1_mc-E17-02-0128-s06.pdf

Role of Munc13-4 as a Ca2+-dependent tether during platelet secretion.

Chicka MC et al.

The Biochemical Journal, 2016

Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion.

Boswell KL et al.

The Journal of Cell Biology, 2012

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."