| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5274 |
Name | SERPINI1 |
Synonymous | PI12|neuroserpin;serpin peptidase inhibitor, clade I (neuroserpin), member 1;SERPINI1;serpin peptidase inhibitor, clade I (neuroserpin), member 1 |
Definition | PI-12|neuroserpin|peptidase inhibitor 12|serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1|serpin I1 |
Position | 3q26.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SERPINI1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
SERPINI1_S192S; chr3; 167510472 |
SUB; SILENT; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.510G>A; p.R170R; |
NS | malignant_melanoma |
c.510G>A; p.R170R; |
NS | malignant_melanoma |
c.695C>A; p.S232Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.64C>T; p.P22S; 3:168989674-168989674 |
skin | malignant_melanoma |
c.475A>G; p.T159A; |
oesophagus | carcinoma; adenocarcinoma |
c.653A>G; p.Y218C; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.11T>G; p.L4R; |
oesophagus | carcinoma; adenocarcinoma |
c.305G>A; p.S102N; |
lung | carcinoma; adenocarcinoma |
c.23C>G; p.S8C; |
liver | carcinoma |
c.677G>A; p.G226E; |
liver | carcinoma |
c.1165C>A; p.L389I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.954A>G; p.K318K; |
liver | carcinoma |
c.710G>C; p.G237A; |
lung | carcinoma; adenocarcinoma |
c.780G>T; p.Q260H; |
lung | carcinoma; adenocarcinoma |
c.662G>C; p.G221A; |
lung | carcinoma; adenocarcinoma |
c.776G>T; p.R259I; |
lung | carcinoma; adenocarcinoma |
c.332C>T; p.S111F; |
skin; trunk | malignant_melanoma |
c.664G>T; p.E222*; |
autonomic_ganglia | neuroblastoma |
c.305G>A; p.S102N; |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.622G>A; p.D208N; |
breast | carcinoma |
c.1046C>T; p.S349L; |
NS | NS |
c.584G>T; p.R195M; |
liver | carcinoma |
c.653A>G; p.Y218C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1157-1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.144C>G; p.F48L; |
lung | carcinoma; squamous_cell_carcinoma |
c.315G>T; p.V105V; |
lung | carcinoma; squamous_cell_carcinoma |
c.657G>A; p.Q219Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.580T>G; p.F194V; |
lung | carcinoma; squamous_cell_carcinoma |
c.67G>T; p.E23*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.562G>T; p.G188W; |
lung | carcinoma; adenocarcinoma |
c.217C>T; p.R73C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.843_844delCT; p.S282fs*20; |
endometrium | carcinoma; endometrioid_carcinoma |
c.46G>T; p.A16S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1131C>A; p.F377L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.242T>A; p.L81Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1165C>A; p.L389I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.330T>G; p.N110K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.218G>A; p.R73H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.894A>G; p.E298E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.509G>T; p.R170M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.637C>A; p.Q213K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.799C>T; p.L267L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.413A>G; p.H138R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.345A>C; p.Q115H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.372T>G; p.F124L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1036G>A; p.E346K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.550G>T; p.V184F; |
breast | carcinoma |
c.239G>T; p.S80I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.786T>C; p.V262V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.955G>T; p.D319Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.599G>A; p.R200K; |
skin | malignant_melanoma |
c.608C>G; p.S203C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |