| Gene ID | 4060 |
| Symbol | LUM |
| Synonymous | LDC|SLRR2D |
| Full name | lumican |
| Gene description | KSPG lumican|keratan sulfate proteoglycan lumican|lumican proteoglycan |
| Cytoband | 12q21.33 |
| Gene type | protein-coding |
| Synonymous | MIM:600616; HGNC:HGNC:6724; HPRD:02793 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.967C>A; p.P323T; 12:91104215-91104215 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.967C>A; p.P323T; 12:91104215-91104215 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.255C>T; p.A85A; 12:91108725-91108725 |
skin | malignant_melanoma | Substitution - coding silent |
c.517G>A; p.E173K; 12:91108463-91108463 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.122G>A; p.C41Y; 12:91108858-91108858 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.539T>G; p.F180C; 12:91108441-91108441 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.602C>G; p.S201C; 12:91108378-91108378 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>A; p.S250Y; 12:91108231-91108231 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.749C>A; p.S250Y; 12:91108231-91108231 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.594A>T; p.R198S; 12:91108386-91108386 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.337T>A; p.S113T; 12:91108643-91108643 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.558C>T; p.L186L; 12:91108422-91108422 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.161A>G; p.D54G; 12:91108819-91108819 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.76C>T; p.P26S; 12:91108904-91108904 |
skin | malignant_melanoma | Substitution - Missense |
c.778G>A; p.D260N; 12:91108202-91108202 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.260A>T; p.E87V; 12:91108720-91108720 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.511C>A; p.L171M; 12:91108469-91108469 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>A; p.E187K; 12:91108421-91108421 |
skin | malignant_melanoma | Substitution - Missense |
c.559G>A; p.E187K; 12:91108421-91108421 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
skin | malignant_melanoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
skin | malignant_melanoma | Substitution - Missense |
c.421G>A; p.D141N; 12:91108559-91108559 |
skin | malignant_melanoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
breast | carcinoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.718G>A; p.E240K; 12:91108262-91108262 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.383T>C; p.L128P; 12:91108597-91108597 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.944G>T; p.R315L; 12:91104238-91104238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.441C>T; p.N147N; 12:91108539-91108539 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.441C>T; p.N147N; 12:91108539-91108539 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.929G>T; p.R310L; 12:91104253-91104253 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.929G>T; p.R310L; 12:91104253-91104253 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.915G>T; p.K305N; 12:91104267-91104267 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.412T>A; p.S138T; 12:91108568-91108568 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.301C>T; p.L101F; 12:91108679-91108679 |
skin | malignant_melanoma | Substitution - Missense |
c.573G>A; p.L191L; 12:91108407-91108407 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.250A>G; p.K84E; 12:91108730-91108730 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.615C>T; p.V205V; 12:91108365-91108365 |
skin | malignant_melanoma | Substitution - coding silent |
c.749C>G; p.S250C; 12:91108231-91108231 |
breast | carcinoma | Substitution - Missense |
c.861G>T; p.E287D; 12:91108119-91108119 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.725C>T; p.A242V; 12:91108255-91108255 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.382C>A; p.L128M; 12:91108598-91108598 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.517G>T; p.E173*; 12:91108463-91108463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.12T>C; p.S4S; 12:91108968-91108968 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.944G>A; p.R315H; 12:91104238-91104238 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.944G>A; p.R315H; 12:91104238-91104238 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.944G>A; p.R315H; 12:91104238-91104238 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.944G>A; p.R315H; 12:91104238-91104238 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.222G>A; p.R74R; 12:91108758-91108758 |
skin | malignant_melanoma | Substitution - coding silent |
c.617C>A; p.S206Y; 12:91108363-91108363 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.634T>G; p.L212V; 12:91108346-91108346 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.345G>T; p.L115F; 12:91108635-91108635 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.184C>A; p.P62T; 12:91108796-91108796 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.575G>A; p.S192N; 12:91108405-91108405 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245R; 12:91108247-91108247 |
skin | malignant_melanoma | Substitution - Missense |
c.174G>A; p.L58L; 12:91108806-91108806 |
skin | malignant_melanoma | Substitution - coding silent |
c.535G>A; p.A179T; 12:91108445-91108445 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.583C>A; p.Q195K; 12:91108397-91108397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.989G>A; p.R330H; 12:91104193-91104193 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.989G>A; p.R330H; 12:91104193-91104193 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.839A>G; p.Y280C; 12:91108141-91108141 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.389_390delAG; p.E130fs*17; 12:91108590-91108591 |
bone | osteosarcoma | Deletion - Frameshift |
c.70G>A; p.D24N; 12:91108910-91108910 |
skin | malignant_melanoma | Substitution - Missense |
c.507T>C; p.N169N; 12:91108473-91108473 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.988C>T; p.R330C; 12:91104194-91104194 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.988C>T; p.R330C; 12:91104194-91104194 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.988C>T; p.R330C; 12:91104194-91104194 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.988C>T; p.R330C; 12:91104194-91104194 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.641A>G; p.N214S; 12:91108339-91108339 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.583C>T; p.Q195*; 12:91108397-91108397 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.575G>C; p.S192T; 12:91108405-91108405 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.31G>A; p.A11T; 12:91108949-91108949 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.703C>T; p.R235C; 12:91108277-91108277 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.977A>T; p.Y326F; 12:91104205-91104205 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.977A>T; p.Y326F; 12:91104205-91104205 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>T; p.R235C; 12:91108277-91108277 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.784T>C; p.S262P; 12:91108196-91108196 |
large_intestine; colon | NS | Substitution - Missense |
c.36G>A; p.L12L; 12:91108944-91108944 |
skin | malignant_melanoma | Substitution - coding silent |
c.36G>A; p.L12L; 12:91108944-91108944 |
skin | malignant_melanoma | Substitution - coding silent |
c.699T>A; p.Y233*; 12:91108281-91108281 |
liver | carcinoma | Substitution - Nonsense |
c.699T>A; p.Y233*; 12:91108281-91108281 |
liver | carcinoma | Substitution - Nonsense |
c.217C>T; p.L73F; 12:91108763-91108763 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.547C>T; p.L183F; 12:91108433-91108433 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.294T>C; p.D98D; 12:91108686-91108686 |
stomach | adenocarcinoma | Substitution - coding silent |
c.413C>A; p.S138Y; 12:91108567-91108567 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.115C>G; p.P39A; 12:91108865-91108865 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.334T>C; p.F112L; 12:91108646-91108646 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.336C>A; p.F112L; 12:91108644-91108644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.334T>C; p.F112L; 12:91108646-91108646 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.661C>G; p.P221A; 12:91108319-91108319 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.683T>C; p.F228S; 12:91108297-91108297 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.493C>A; p.H165N; 12:91108487-91108487 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.460T>A; p.S154T; 12:91108520-91108520 |
liver | carcinoma | Substitution - Missense |
c.1000G>A; p.E334K; 12:91104182-91104182 |
skin | malignant_melanoma | Substitution - Missense |
c.905C>T; p.S302F; 12:91104277-91104277 |
skin | malignant_melanoma | Substitution - Missense |
c.743G>A; p.G248E; 12:91108237-91108237 |
skin | malignant_melanoma | Substitution - Missense |
c.697T>A; p.Y233N; 12:91108283-91108283 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.743G>A; p.G248E; 12:91108237-91108237 |
skin | malignant_melanoma | Substitution - Missense |
c.743G>A; p.G248E; 12:91108237-91108237 |
skin | malignant_melanoma | Substitution - Missense |
c.397G>C; p.G133R; 12:91108583-91108583 |
breast | carcinoma | Substitution - Missense |
c.891C>T; p.I297I; 12:91104291-91104291 |
skin | malignant_melanoma | Substitution - coding silent |
c.509G>T; p.R170L; 12:91108471-91108471 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.764C>T; p.S255F; 12:91108216-91108216 |
skin | malignant_melanoma | Substitution - Missense |
c.617C>T; p.S206F; 12:91108363-91108363 |
skin | malignant_melanoma | Substitution - Missense |
c.336C>T; p.F112F; 12:91108644-91108644 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.718G>T; p.E240*; 12:91108262-91108262 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.929G>A; p.R310H; 12:91104253-91104253 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.634T>C; p.L212L; 12:91108346-91108346 |
skin | malignant_melanoma | Substitution - coding silent |
c.335T>C; p.F112S; 12:91108645-91108645 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.968C>T; p.P323L; 12:91104214-91104214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.585G>C; p.Q195H; 12:91108395-91108395 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.510G>A; p.R170R; 12:91108470-91108470 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.64G>C; p.D22H; 12:91108916-91108916 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.274C>A; p.L92M; 12:91108706-91108706 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.378C>G; p.N126K; 12:91108602-91108602 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.508C>A; p.R170R; 12:91108472-91108472 |
large_intestine; colon | NS | Substitution - coding silent |
c.60C>G; p.Y20*; 12:91108920-91108920 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.918C>T; p.I306I; 12:91104264-91104264 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |