| Gene ID | 5753 |
| Symbol | PTK6 |
| Synonymous | BRK |
| Full name | protein tyrosine kinase 6 |
| Gene description | PTK6 protein tyrosine kinase 6|breast tumor kinase|protein-tyrosine kinase 6|protein-tyrosine kinase BRK|tyrosine-protein kinase BRK |
| Cytoband | 20q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:602004; HGNC:HGNC:9617; Ensembl:ENSG00000101213; HPRD:03594; Vega:OTTHUMG00000033039 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1103_1104CC>TT; p.S368F; 20:63530142-63530143 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.985G>C; p.G329R; 20:63530775-63530775 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.968delA; p.N323fs*11; 20:63530792-63530792 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.255_258delCTCG; p.S86fs*17; 20:63535032-63535035 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.699G>A; p.Q233Q; 20:63532659-63532659 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.643C>T; p.Q215*; 20:63533578-63533578 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.957C>T; p.L319L; 20:63530803-63530803 |
breast | carcinoma | Substitution - coding silent |
c.741C>T; p.I247I; 20:63532617-63532617 |
skin | malignant_melanoma | Substitution - coding silent |
c.233G>T; p.W78L; 20:63535057-63535057 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.668G>A; p.R223Q; 20:63533553-63533553 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.751T>C; p.Y251H; 20:63532607-63532607 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.392G>T; p.R131L; 20:63534276-63534276 |
stomach | carcinoma | Substitution - Missense |
c.1063G>T; p.A355S; 20:63530183-63530183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.390G>C; p.W130C; 20:63534278-63534278 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.969C>T; p.N323N; 20:63530791-63530791 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1166C>T; p.P389L; 20:63530080-63530080 |
skin | malignant_melanoma | Substitution - Missense |
c.271C>A; p.R91R; 20:63535019-63535019 |
ovary | other; neoplasm | Substitution - coding silent |
c.161G>A; p.G54D; 20:63537154-63537154 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.13G>T; p.D5Y; 20:63537302-63537302 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.861G>A; p.S287S; 20:63530899-63530899 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.659T>A; p.V220E; 20:63533562-63533562 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1338C>T; p.S446S; 20:63529554-63529554 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.713C>A; p.A238D; 20:63532645-63532645 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.753C>T; p.Y251Y; 20:63532605-63532605 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.507C>T; p.P169P; 20:63534161-63534161 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.756C>T; p.A252A; 20:63532602-63532602 |
breast | carcinoma | Substitution - coding silent |
c.646G>A; p.V216M; 20:63533575-63533575 |
skin | malignant_melanoma | Substitution - Missense |
c.897C>A; p.G299G; 20:63530863-63530863 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.392G>C; p.R131P; 20:63534276-63534276 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.950A>G; p.N317S; 20:63530810-63530810 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.353-8C>T; p.?; 20:63534323-63534323 |
pancreas | carcinoma | Unknown |
c.671-7C>T; p.?; 20:63532694-63532694 |
skin; upper_leg | malignant_melanoma | Unknown |
c.179G>T; p.G60V; 20:63537136-63537136 |
skin | malignant_melanoma | Substitution - Missense |
c.757G>A; p.V253M; 20:63532601-63532601 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.909G>A; p.L303L; 20:63530851-63530851 |
ovary | other; neoplasm | Substitution - coding silent |
c.45_46CC>TT; p.G15_L16>GF; 20:63537269-63537270 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Complex - compound substitution |
c.45_46CC>TT; p.G15_L16>GF; 20:63537269-63537270 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Complex - compound substitution |
c.874A>G; p.I292V; 20:63530886-63530886 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.70G>A; p.D24N; 20:63537245-63537245 |
skin | malignant_melanoma | Substitution - Missense |
c.269G>T; p.R90L; 20:63535021-63535021 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1241C>A; p.P414H; 20:63529651-63529651 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.253C>T; p.R85C; 20:63535037-63535037 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.588G>T; p.K196N; 20:63533633-63533633 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1A>G; p.M1V; 20:63537314-63537314 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.948G>A; p.R316R; 20:63530812-63530812 |
skin | malignant_melanoma | Substitution - coding silent |
c.322G>A; p.E108K; 20:63534968-63534968 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.973C>A; p.L325I; 20:63530787-63530787 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1027C>T; p.L343F; 20:63530219-63530219 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1159C>T; p.P387S; 20:63530087-63530087 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.858T>C; p.V286V; 20:63530902-63530902 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.575C>T; p.T192M; 20:63533646-63533646 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.561G>A; p.P187P; 20:63533660-63533660 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1107C>G; p.D369E; 20:63530139-63530139 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.24C>A; p.H8Q; 20:63537291-63537291 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.24C>A; p.H8Q; 20:63537291-63537291 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.158C>T; p.A53V; 20:63537157-63537157 |
skin | malignant_melanoma | Substitution - Missense |
c.690G>A; p.Q230Q; 20:63532668-63532668 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.258G>C; p.S86S; 20:63535032-63535032 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.742C>T; p.L248L; 20:63532616-63532616 |
breast | carcinoma | Substitution - coding silent |
c.585G>A; p.R195R; 20:63533636-63533636 |
skin | malignant_melanoma | Substitution - coding silent |
c.832G>A; p.D278N; 20:63532526-63532526 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1302C>A; p.F434L; 20:63529590-63529590 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.558G>A; p.R186R; 20:63533663-63533663 |
skin | malignant_melanoma | Substitution - coding silent |
c.119A>C; p.K40T; 20:63537196-63537196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.50G>T; p.W17L; 20:63537265-63537265 |
oesophagus | carcinoma | Substitution - Missense |
c.852G>A; p.L284L; 20:63530908-63530908 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.629G>A; p.W210*; 20:63533592-63533592 |
skin; arm | malignant_melanoma | Substitution - Nonsense |
c.111G>A; p.V37V; 20:63537204-63537204 |
skin | malignant_melanoma | Substitution - coding silent |
c.618C>T; p.F206F; 20:63533603-63533603 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.978C>T; p.C326C; 20:63530782-63530782 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |