| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 5265 |
Name | SERPINA1 |
Synonymous | A1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT;serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1;SERPINA1;serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
Definition | alpha-1 protease inhibitor|alpha-1-antiproteinase|alpha-1-antitrypsin|alpha-1-antitrypsin null|protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin|serine (or cysteine) proteinase inhibitor, clade A, member 1|serpin A1 |
Position | 14q32.1 |
Gene Type | protein-coding |
Gene Mutation: | GWAS results PAH samples Lung cancer |
GWAS results [Top] | ||
There is no record for SERPINA1 | ||
Lung cancer [Top] | ||
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
p.G188D; chr14:94849012-94849012 |
lung | adenocarcinoma; carcinoma |
p.T46T; chr14:94849437-94849437 |
lung | adenocarcinoma; carcinoma |
p.E165Q; chr14:94849082-94849082 |
lung | adenocarcinoma; carcinoma |
p.G319V; chr14:94845910-94845910 |
lung | squamous_cell_carcinoma; carcinoma |
p.G339W; chr14:94845851-94845851 |
lung | small_cell_carcinoma; carcinoma |
p.?; chr14:94845955-94845955 |
lung | adenocarcinoma; carcinoma |
p.?; chr14:94845955-94845955 |
lung | adenocarcinoma; carcinoma |
p.T138T; chr14:94849161-94849161 |
lung | adenocarcinoma; carcinoma |
p.Y268F; chr14:94847322-94847322 |
lung | adenocarcinoma; carcinoma |