Varaico: Literature-Extracted Genetic Variants

Gene:STX8
Variant:p.R141Q
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STX8

NM_004853.3:p.R141Q

Associated Papers

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

Parlato M et al.

Embo Molecular Medicine, 2018

29567797 (PubMed )
Supplement: EMMM-10-e8483-s001.pdf

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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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."