| Gene ID | 3816 |
| Symbol | KLK1 |
| Synonymous | KLKR|Klk6|hK1 |
| Full name | kallikrein 1 |
| Gene description | glandular kallikrein 1|kallikrein 1, renal/pancreas/salivary|kallikrein serine protease 1|kallikrein-1|kidney/pancreas/salivary gland kallikrein|tissue kallikrein |
| Cytoband | 19q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:147910; HGNC:HGNC:6357; Ensembl:ENSG00000167748; HPRD:01003; Vega:OTTHUMG00000182876 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.53C>T; p.A18V; 19:50821865-50821865 |
liver | carcinoma | Substitution - Missense |
c.53C>T; p.A18V; 19:50821865-50821865 |
liver | carcinoma | Substitution - Missense |
c.329C>T; p.T110I; 19:50820321-50820321 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.442G>A; p.E148K; 19:50820208-50820208 |
skin | malignant_melanoma | Substitution - Missense |
c.292C>T; p.H98Y; 19:50820358-50820358 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.784T>A; p.S262T; 19:50819199-50819199 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.13G>T; p.V5F; 19:50823736-50823736 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.561_562insA; p.A188fs*26; 19:50819970-50819971 |
breast | carcinoma | Insertion - Frameshift |
c.548A>C; p.D183A; 19:50819984-50819984 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.405T>C; p.D135D; 19:50820245-50820245 |
thyroid | other; neoplasm | Substitution - coding silent |
c.583G>C; p.D195H; 19:50819949-50819949 |
breast | carcinoma | Substitution - Missense |
c.763G>A; p.E255K; 19:50819220-50819220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.763G>A; p.E255K; 19:50819220-50819220 |
skin | malignant_melanoma | Substitution - Missense |
c.170G>A; p.R57H; 19:50821748-50821748 |
meninges | meningioma; haemangiopericytic | Substitution - Missense |
c.170G>A; p.R57H; 19:50821748-50821748 |
oesophagus | carcinoma | Substitution - Missense |
c.42_43insG; p.T15fs*18; 19:50823706-50823707 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.492G>T; p.E164D; 19:50820158-50820158 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.698T>A; p.V233D; 19:50819285-50819285 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.559A>C; p.K187Q; 19:50819973-50819973 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.780G>T; p.E260D; 19:50819203-50819203 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.673C>T; p.Q225*; 19:50819310-50819310 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.556A>G; p.K186E; 19:50819976-50819976 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.780G>T; p.E260D; 19:50819203-50819203 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.556A>G; p.K186E; 19:50819976-50819976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.174G>A; p.Q58Q; 19:50821744-50821744 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.516C>T; p.L172L; 19:50820016-50820016 |
breast | carcinoma | Substitution - coding silent |
c.576G>A; p.K192K; 19:50819956-50819956 |
breast | carcinoma | Substitution - coding silent |
c.741G>A; p.V247V; 19:50819242-50819242 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.776C>T; p.A259V; 19:50819207-50819207 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.776C>T; p.A259V; 19:50819207-50819207 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.149G>T; p.C50F; 19:50821769-50821769 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.780G>C; p.E260D; 19:50819203-50819203 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.429C>A; p.P143P; 19:50820221-50820221 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.433G>C; p.E145Q; 19:50820217-50820217 |
thyroid | other; neoplasm | Substitution - Missense |
c.603A>C; p.G201G; 19:50819929-50819929 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.701C>T; p.P234L; 19:50819282-50819282 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.547G>A; p.D183N; 19:50819985-50819985 |
skin | malignant_melanoma | Substitution - Missense |
c.291A>G; p.P97P; 19:50820359-50820359 |
skin | malignant_melanoma | Substitution - coding silent |
c.39_40GG>AA; p.G14R; 19:50823709-50823710 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.442G>C; p.E148Q; 19:50820208-50820208 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.46G>A; p.G16S; 19:50823703-50823703 |
skin | malignant_melanoma | Substitution - Missense |
c.626C>G; p.T209S; 19:50819906-50819906 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.42delG; p.T15fs*89; 19:50823707-50823707 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.42delG; p.T15fs*89; 19:50823707-50823707 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.386C>G; p.P129R; 19:50820264-50820264 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.340G>A; p.D114N; 19:50820310-50820310 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.326A>C; p.H109P; 19:50820324-50820324 |
skin | malignant_melanoma | Substitution - Missense |
c.355C>A; p.H119N; 19:50820295-50820295 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10C>T; p.L4L; 19:50823739-50823739 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.169C>A; p.R57S; 19:50821749-50821749 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.531C>T; p.L177L; 19:50820001-50820001 |
skin | malignant_melanoma | Substitution - coding silent |
c.648C>G; p.G216G; 19:50819335-50819335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.753G>T; p.V251V; 19:50819230-50819230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.772A>G; p.I258V; 19:50819211-50819211 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.60G>A; p.P20P; 19:50821858-50821858 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.762C>T; p.I254I; 19:50819221-50819221 |
skin | malignant_melanoma | Substitution - coding silent |