| Gene ID | 25818 |
| Symbol | KLK5 |
| Synonymous | KLK-L2|KLKL2|SCTE |
| Full name | kallikrein-related peptidase 5 |
| Gene description | kallikrein 5|kallikrein-5|kallikrein-like protein 2|stratum corneum tryptic enzyme |
| Cytoband | 19q13.33 |
| Gene type | protein-coding |
| Synonymous | MIM:605643; HGNC:HGNC:6366; Ensembl:ENSG00000167754; HPRD:05732; Vega:OTTHUMG00000183097 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.74-9C>T; p.?; 19:50950125-50950125 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.382G>A; p.E128K; 19:50949069-50949069 |
skin | malignant_melanoma | Substitution - Missense |
c.6T>C; p.A2A; 19:50952652-50952652 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.651C>T; p.C217C; 19:50948715-50948715 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.651C>T; p.C217C; 19:50948715-50948715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.490C>T; p.R164C; 19:50948961-50948961 |
skin | malignant_melanoma | Substitution - Missense |
c.600C>T; p.F200F; 19:50948766-50948766 |
skin | malignant_melanoma | Substitution - coding silent |
c.490C>T; p.R164C; 19:50948961-50948961 |
skin | malignant_melanoma | Substitution - Missense |
c.490C>T; p.R164C; 19:50948961-50948961 |
breast | carcinoma | Substitution - Missense |
c.490C>T; p.R164C; 19:50948961-50948961 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.600C>T; p.F200F; 19:50948766-50948766 |
skin | malignant_melanoma | Substitution - coding silent |
c.490C>T; p.R164C; 19:50948961-50948961 |
skin | malignant_melanoma | Substitution - Missense |
c.490C>T; p.R164C; 19:50948961-50948961 |
skin | malignant_melanoma | Substitution - Missense |
c.490C>T; p.R164C; 19:50948961-50948961 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.264C>T; p.P88P; 19:50949926-50949926 |
skin | malignant_melanoma | Substitution - coding silent |
c.665C>T; p.P222L; 19:50948701-50948701 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.176G>A; p.R59Q; 19:50950014-50950014 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.109C>A; p.H37N; 19:50950081-50950081 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.779C>T; p.S260F; 19:50943734-50943734 |
skin | malignant_melanoma | Substitution - Missense |
c.779C>T; p.S260F; 19:50943734-50943734 |
skin | malignant_melanoma | Substitution - Missense |
c.812G>A; p.R271K; 19:50943701-50943701 |
skin | malignant_melanoma | Substitution - Missense |
c.464T>C; p.M155T; 19:50948987-50948987 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.69C>T; p.V23V; 19:50952589-50952589 |
skin | malignant_melanoma | Substitution - coding silent |
c.118A>C; p.N40H; 19:50950072-50950072 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.138C>T; p.S46S; 19:50950052-50950052 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.138C>T; p.S46S; 19:50950052-50950052 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.758G>C; p.G253A; 19:50943755-50943755 |
pancreas | carcinoma | Substitution - Missense |
c.881G>C; p.*294S; 19:50943632-50943632 |
oesophagus | carcinoma; adenocarcinoma | Nonstop extension |
c.420C>T; p.I140I; 19:50949031-50949031 |
skin | malignant_melanoma | Substitution - coding silent |
c.32T>G; p.V11G; 19:50952626-50952626 |
skin | malignant_melanoma | Substitution - Missense |
c.166G>A; p.E56K; 19:50950024-50950024 |
NS | malignant_melanoma | Substitution - Missense |
c.800C>T; p.A267V; 19:50943713-50943713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.727G>T; p.G243C; 19:50943786-50943786 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.687G>A; p.M229I; 19:50948679-50948679 |
ovary | other; neoplasm | Substitution - Missense |
c.687G>A; p.M229I; 19:50948679-50948679 |
ovary | other; neoplasm | Substitution - Missense |
c.219C>T; p.C73C; 19:50949971-50949971 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.687G>A; p.M229I; 19:50948679-50948679 |
ovary | other; neoplasm | Substitution - Missense |
c.219C>T; p.C73C; 19:50949971-50949971 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.579C>T; p.T193T; 19:50948872-50948872 |
liver | carcinoma | Substitution - coding silent |
c.697G>A; p.G233S; 19:50948669-50948669 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.101C>T; p.S34F; 19:50950089-50950089 |
skin | malignant_melanoma | Substitution - Missense |
c.798T>C; p.C266C; 19:50943715-50943715 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.314C>T; p.T105M; 19:50949876-50949876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.314C>T; p.T105M; 19:50949876-50949876 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.604A>G; p.K202E; 19:50948762-50948762 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.181G>A; p.D61N; 19:50950009-50950009 |
NS | malignant_melanoma | Substitution - Missense |
c.604A>G; p.K202E; 19:50948762-50948762 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.500A>T; p.K167I; 19:50948951-50948951 |
skin | malignant_melanoma | Substitution - Missense |
c.431G>T; p.G144V; 19:50949020-50949020 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.664C>T; p.P222S; 19:50948702-50948702 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.664C>T; p.P222S; 19:50948702-50948702 |
skin | malignant_melanoma | Substitution - Missense |
c.239G>T; p.W80L; 19:50949951-50949951 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.519C>T; p.N173N; 19:50948932-50948932 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.657T>C; p.D219D; 19:50948709-50948709 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.651C>G; p.C217W; 19:50948715-50948715 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.21C>A; p.P7P; 19:50952637-50952637 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.354C>T; p.L118L; 19:50949097-50949097 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.443C>A; p.P148H; 19:50949008-50949008 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.537C>T; p.P179P; 19:50948914-50948914 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.319G>A; p.A107T; 19:50949871-50949871 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.542C>T; p.A181V; 19:50948909-50948909 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.468C>A; p.L156L; 19:50948983-50948983 |
oesophagus | carcinoma | Substitution - coding silent |
c.827C>T; p.T276M; 19:50943686-50943686 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.540T>C; p.S180S; 19:50948911-50948911 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.615G>T; p.Q205H; 19:50948751-50948751 |
breast | carcinoma | Substitution - Missense |
c.120C>A; p.N40K; 19:50950070-50950070 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.191G>A; p.S64N; 19:50949999-50949999 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.769G>A; p.G257R; 19:50943744-50943744 |
skin | malignant_melanoma | Substitution - Missense |
c.435C>A; p.Y145*; 19:50949016-50949016 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.613C>T; p.Q205*; 19:50948753-50948753 |
skin | malignant_melanoma | Substitution - Nonsense |
c.595C>T; p.H199Y; 19:50948771-50948771 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.128C>A; p.P43H; 19:50950062-50950062 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.163G>A; p.G55R; 19:50950027-50950027 |
breast | carcinoma | Substitution - Missense |
c.48C>G; p.I16M; 19:50952610-50952610 |
breast | carcinoma | Substitution - Missense |
c.677A>C; p.D226A; 19:50948689-50948689 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.350G>A; p.R117H; 19:50949101-50949101 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.610C>A; p.L204I; 19:50948756-50948756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.74A>T; p.E25V; 19:50950116-50950116 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.627C>T; p.I209I; 19:50948739-50948739 |
skin | malignant_melanoma | Substitution - coding silent |
c.582G>A; p.K194K; 19:50948869-50948869 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.491G>A; p.R164H; 19:50948960-50948960 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.516C>T; p.I172I; 19:50948935-50948935 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.572G>A; p.G191E; 19:50948879-50948879 |
skin | malignant_melanoma | Substitution - Missense |
c.209G>A; p.G70E; 19:50949981-50949981 |
skin | malignant_melanoma | Substitution - Missense |
c.734C>T; p.S245F; 19:50943779-50943779 |
skin | malignant_melanoma | Substitution - Missense |
c.666G>C; p.P222P; 19:50948700-50948700 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.136A>T; p.S46C; 19:50950054-50950054 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.386C>G; p.S129C; 19:50949065-50949065 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.123C>T; p.T41T; 19:50950067-50950067 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.368T>A; p.L123Q; 19:50949083-50949083 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.450C>T; p.H150H; 19:50949001-50949001 |
breast | carcinoma | Substitution - coding silent |
c.441_442CC>AG; p.H147_P148>QA; 19:50949009-50949010 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Complex - compound substitution |
c.212C>T; p.S71F; 19:50949978-50949978 |
skin | malignant_melanoma | Substitution - Missense |
c.352C>T; p.L118F; 19:50949099-50949099 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.169G>A; p.D57N; 19:50950021-50950021 |
skin | malignant_melanoma | Substitution - Missense |