| 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: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SERPINA1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
SERPINA1_G410E; chr14; 94844814 |
SUB; MISSENSE; C; C/T; SOMATIC | HYPO; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.609C>G; p.D203E; |
liver | carcinoma; hepatocellular_carcinoma |
c.563G>A; p.G188D; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.461T>C; p.F154S; |
large_intestine | carcinoma; adenocarcinoma |
c.285C>A; p.D95E; |
oesophagus | carcinoma; adenocarcinoma |
c.1200A>C; p.E400D; |
stomach | carcinoma; adenocarcinoma |
c.1081G>A; p.V361M; |
liver | carcinoma |
c.740G>A; p.R247H; |
liver | carcinoma; hepatocellular_carcinoma |
c.854A>C; p.Q285P; |
large_intestine; colon | carcinoma |
c.138C>T; p.T46T; |
lung | carcinoma; adenocarcinoma |
c.414C>T; p.T138T; |
lung | carcinoma; adenocarcinoma |
c.803A>T; p.Y268F; |
lung | carcinoma; adenocarcinoma |
c.493G>C; p.E165Q; |
lung | carcinoma; adenocarcinoma |
c.879C>T; p.H293H; 14:93916999-93916999 |
skin | malignant_melanoma |
c.612_613insA; p.V205fs*11; |
liver | carcinoma |
c.1015G>T; p.G339W; |
lung | carcinoma; small_cell_carcinoma |
c.961T>A; p.Y321N; |
large_intestine; colon | adenoma |
c.171C>T; p.F57F; |
ovary | carcinoma; serous_carcinoma |
c.795G>A; p.L265L; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.945G>T; p.L315L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.956G>T; p.G319V; |
lung | carcinoma; squamous_cell_carcinoma |
c.619G>T; p.A207S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.563G>A; p.G188D; |
lung | carcinoma; adenocarcinoma |
c.458A>C; p.K153T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.552C>G; p.Y184*; |
breast | carcinoma |
c.4C>G; p.P2A; |
breast | carcinoma |
c.878A>G; p.H293R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.225C>A; p.F75L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.292G>A; p.D98N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.626T>C; p.V209A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.152C>T; p.T51I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.187C>T; p.R63C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.849delA; p.K283fs*41; |
breast | carcinoma |
c.877C>T; p.H293Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.522C>T; p.T174T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1065+1G>A; p.?; |
breast | carcinoma |
c.1030G>A; p.G344R; |
breast | carcinoma |
c.1148C>A; p.S383Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.554T>C; p.V185A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.740G>A; p.R247H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1219C>G; p.L407V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.356G>A; p.G119D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.976G>A; p.V326I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1130delT; p.L377fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.735G>A; p.M245I; |
skin | malignant_melanoma |
c.1015G>A; p.G339R; |
skin | malignant_melanoma |
c.266C>T; p.S89F; |
skin | malignant_melanoma |
c.85G>A; p.G29R; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.1065+1G>A; p.?; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.1061C>T; p.S354F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.497C>T; p.A166V; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.389C>T; p.P130L; |
skin; ear | carcinoma; squamous_cell_carcinoma |