| Gene ID | 3916 |
| Symbol | LAMP1 |
| Synonymous | CD107a|LAMPA|LGP120 |
| Full name | lysosomal-associated membrane protein 1 |
| Gene description | CD107 antigen-like family member A|LAMP-1|lysosome-associated membrane glycoprotein 1|lysosome-associated membrane protein 1 |
| Cytoband | 13q34 |
| Gene type | protein-coding |
| Synonymous | MIM:153330; HGNC:HGNC:6499; Ensembl:ENSG00000185896; HPRD:01076; Vega:OTTHUMG00000017380 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.530C>T; p.A177V; 13:113310835-113310835 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.562+7C>T; p.?; 13:113310874-113310874 |
pancreas | carcinoma | Unknown |
c.913C>T; p.Q305*; 13:113321440-113321440 |
skin | malignant_melanoma | Substitution - Nonsense |
c.870C>T; p.F290F; 13:113320464-113320464 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.237C>T; p.S79S; 13:113309696-113309696 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1228A>C; p.S410R; 13:113322395-113322395 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.926T>C; p.I309T; 13:113321453-113321453 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.807C>T; p.C269C; 13:113320401-113320401 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.926T>C; p.I309T; 13:113321453-113321453 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.926T>C; p.I309T; 13:113321453-113321453 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.192C>A; p.T64T; 13:113309651-113309651 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.552C>T; p.F184F; 13:113310857-113310857 |
skin | malignant_melanoma | Substitution - coding silent |
c.967G>A; p.G323S; 13:113321580-113321580 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.747_750+35del39; p.?; 13:113319653-113319691 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.1020G>A; p.A340A; 13:113321633-113321633 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.981G>A; p.A327A; 13:113321594-113321594 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1227G>T; p.R409S; 13:113322394-113322394 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.183+6A>T; p.?; 13:113306612-113306612 |
pancreas | carcinoma | Unknown |
c.897T>G; p.F299L; 13:113321424-113321424 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.339C>A; p.V113V; 13:113309798-113309798 |
prostate | carcinoma | Substitution - coding silent |
c.1195G>A; p.V399I; 13:113322362-113322362 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.112G>A; p.G38R; 13:113306535-113306535 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.386C>T; p.P129L; 13:113309845-113309845 |
NS | malignant_melanoma | Substitution - Missense |
c.572G>T; p.C191F; 13:113319478-113319478 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1041G>A; p.T347T; 13:113321654-113321654 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.236C>A; p.S79Y; 13:113309695-113309695 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.612G>A; p.A204A; 13:113319518-113319518 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.130G>A; p.A44T; 13:113306553-113306553 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.977G>A; p.R326Q; 13:113321590-113321590 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.935A>G; p.D312G; 13:113321462-113321462 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046C>T; p.A349V; 13:113321659-113321659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.163G>A; p.D55N; 13:113306586-113306586 |
NS | NS | Substitution - Missense |
c.65T>C; p.L22P; 13:113306488-113306488 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1021G>T; p.E341*; 13:113321634-113321634 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.611C>T; p.A204V; 13:113319517-113319517 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.V285I; 13:113320447-113320447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.611C>T; p.A204V; 13:113319517-113319517 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.349A>T; p.S117C; 13:113309808-113309808 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.996C>T; p.V332V; 13:113321609-113321609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.314C>T; p.T105M; 13:113309773-113309773 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.535C>T; p.L179F; 13:113310840-113310840 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205T>C; p.S69P; 13:113309664-113309664 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.507G>A; p.T169T; 13:113310812-113310812 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.507G>A; p.T169T; 13:113310812-113310812 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.29C>T; p.P10L; 13:113297463-113297463 |
bone; scapula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1191C>T; p.L397L; 13:113322358-113322358 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.183G>T; p.K61N; 13:113306606-113306606 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1047G>A; p.A349A; 13:113321660-113321660 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1186G>A; p.V396I; 13:113322353-113322353 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.893G>T; p.R298L; 13:113321420-113321420 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1203C>T; p.I401I; 13:113322370-113322370 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.337G>A; p.V113I; 13:113309796-113309796 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.178C>T; p.P60S; 13:113306601-113306601 |
skin | malignant_melanoma | Substitution - Missense |
c.322G>A; p.A108T; 13:113309781-113309781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.139T>C; p.S47P; 13:113306562-113306562 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.407T>G; p.I136S; 13:113310712-113310712 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.892C>T; p.R298W; 13:113321419-113321419 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.140C>G; p.S47C; 13:113306563-113306563 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.134A>G; p.N45S; 13:113306557-113306557 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1169G>A; p.G390D; 13:113322336-113322336 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.236C>G; p.S79C; 13:113309695-113309695 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1019C>T; p.A340V; 13:113321632-113321632 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.947C>T; p.P316L; 13:113321560-113321560 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.966C>T; p.N322N; 13:113321579-113321579 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.966C>T; p.N322N; 13:113321579-113321579 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1033C>T; p.R345C; 13:113321646-113321646 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1033C>T; p.R345C; 13:113321646-113321646 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.744C>T; p.D248D; 13:113319650-113319650 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1003T>C; p.S335P; 13:113321616-113321616 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1003T>C; p.S335P; 13:113321616-113321616 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.750+1G>A; p.?; 13:113319657-113319657 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.484C>A; p.H162N; 13:113310789-113310789 |
breast | carcinoma | Substitution - Missense |