Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.D365E
Back to variants list

SERPINA1

NM_000295.5:p.D365E

Associated Papers

Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.

Matamala N et al.

Respiratory Research, 2026

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.

Boujemaa M et al.

Journal of Translational Medicine, 2025

41088366 (PubMed )
Supplement: 12967_2025_7027_MOESM1_ESM.xlsx › S5

Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Meyers S et al.

Hemasphere, 2022

35291210 (PubMed )
Supplement: hs9-6-e700-s004.xlsx › XG111

The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.

Ortega VE et al.

American Journal of Respiratory and Critical Care Medicine, 2020

Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype.

Joly P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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."