Varaico: Literature-Extracted Genetic Variants

Gene:ANO6
Variant:p.D249_C250Splc
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ANO6

NM_001025356.3:p.D249_C250Splc

Associated Papers

Scott syndrome with novel compound heterozygous pathogenic variants in ANO6 and reduced thrombin generation.

Ahmed A et al.

Haematologica, 2026

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

Combined Quantification of the Global Proteome, Phosphoproteome, and Proteolytic Cleavage to Characterize Altered Platelet Functions in the Human Scott Syndrome.

Solari FA et al.

Molecular & Cellular Proteomics : Mcp, 2016

Survival protein anoctamin-6 controls multiple platelet responses including phospholipid scrambling, swelling, and protein cleavage.

Mattheij NJ et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016

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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."