Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.F76S
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SERPINA1

NM_000295.5:p.F76S

Associated Papers

Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause.

Yildirimli B et al.

Medeniyet Medical Journal, 2025

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency.

Shaik NA et al.

Frontiers in Molecular Biosciences, 2022

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