Varaico: Literature-Extracted Genetic Variants

Gene:GPAA1
Variant:p.N323S
Back to variants list

GPAA1

NM_003801.4:p.N323S

Associated Papers

Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins.

Li D

Sub-cellular Biochemistry, 2024

A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.

Li Y et al.

Human Genetics, 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."