| Gene ID | 81671 |
| Symbol | VMP1 |
| Synonymous | EPG3|TANGO5|TMEM49 |
| Full name | vacuole membrane protein 1 |
| Gene description | ectopic P-granules autophagy protein 3 homolog|transmembrane protein 49|transport and golgi organization 5 homolog |
| Cytoband | 17q23.1 |
| Gene type | protein-coding |
| Synonymous | MIM:611753; HGNC:HGNC:29559; Ensembl:ENSG00000062716; HPRD:15649; Vega:OTTHUMG00000179882 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.579G>C; p.M193I; 17:59765135-59765135 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.637C>T; p.R213C; 17:59773808-59773808 |
liver | carcinoma | Substitution - Missense |
c.637C>T; p.R213C; 17:59773808-59773808 |
liver | carcinoma | Substitution - Missense |
c.44T>C; p.M15T; 17:59731490-59731490 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1079G>C; p.G360A; 17:59839769-59839769 |
central_nervous_system; posterior_fossa | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1045C>A; p.L349I; 17:59838365-59838365 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1020G>A; p.E340E; 17:59838340-59838340 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1081G>C; p.E361Q; 17:59839771-59839771 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.769delT; p.F258fs*19; 17:59808850-59808850 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1035A>G; p.Q345Q; 17:59838355-59838355 |
breast | carcinoma | Substitution - coding silent |
c.805C>T; p.P269S; 17:59811679-59811679 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>T; p.Q339*; 17:59838335-59838335 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.1015C>T; p.Q339*; 17:59838335-59838335 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1038G>A; p.R346R; 17:59838358-59838358 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.105G>T; p.R35S; 17:59735366-59735366 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.353G>T; p.G118V; 17:59738886-59738886 |
liver | carcinoma | Substitution - Missense |
c.864C>G; p.F288L; 17:59811738-59811738 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.81C>A; p.P27P; 17:59735342-59735342 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.118G>A; p.E40K; 17:59735379-59735379 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.331C>A; p.L111I; 17:59738864-59738864 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.331C>A; p.L111I; 17:59738864-59738864 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.536C>T; p.S179F; 17:59765092-59765092 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.215T>C; p.L72S; 17:59737455-59737455 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.604G>A; p.E202K; 17:59773775-59773775 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1116C>T; p.V372V; 17:59839806-59839806 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1203_1204delAG; p.E402fs*4; 17:59839893-59839894 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.79C>A; p.P27T; 17:59735340-59735340 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.131T>G; p.I44S; 17:59735392-59735392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>A; p.R394Q; 17:59839871-59839871 |
central_nervous_system; posterior_fossa | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1116C>G; p.V372V; 17:59839806-59839806 |
breast | carcinoma | Substitution - coding silent |
c.838C>T; p.H280Y; 17:59811712-59811712 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.631G>T; p.A211S; 17:59773802-59773802 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.991G>T; p.G331C; 17:59838311-59838311 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.864C>T; p.F288F; 17:59811738-59811738 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.775G>A; p.G259R; 17:59808856-59808856 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1077+2T>C; p.?; 17:59838399-59838399 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.223C>G; p.R75G; 17:59737463-59737463 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.632C>A; p.A211E; 17:59773803-59773803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.422A>T; p.H141L; 17:59764978-59764978 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1130G>T; p.C377F; 17:59839820-59839820 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.748A>C; p.K250Q; 17:59808829-59808829 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.931A>G; p.T311A; 17:59817730-59817730 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1094C>T; p.S365F; 17:59839784-59839784 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036C>T; p.R346W; 17:59838356-59838356 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.213-1G>A; p.?; 17:59737452-59737452 |
skin; neck | malignant_melanoma | Unknown |
c.1081G>A; p.E361K; 17:59839771-59839771 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>C; p.V187L; 17:59765115-59765115 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.150G>A; p.P50P; 17:59735411-59735411 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.45G>A; p.M15I; 17:59731491-59731491 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.830C>T; p.T277M; 17:59811704-59811704 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1005G>A; p.Q335Q; 17:59838325-59838325 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.371C>G; p.S124C; 17:59738904-59738904 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1215T>G; p.T405T; 17:59839905-59839905 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.552C>T; p.I184I; 17:59765108-59765108 |
breast | carcinoma | Substitution - coding silent |
c.971T>C; p.I324T; 17:59817770-59817770 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.490G>A; p.D164N; 17:59765046-59765046 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.490G>A; p.D164N; 17:59765046-59765046 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.314G>A; p.R105H; 17:59738847-59738847 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Missense |
c.687G>T; p.E229D; 17:59773858-59773858 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1101_1102insT; p.E369fs*1; 17:59839791-59839792 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.621C>T; p.F207F; 17:59773792-59773792 |
skin | malignant_melanoma | Substitution - coding silent |
c.474C>T; p.P158P; 17:59765030-59765030 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1159A>G; p.M387V; 17:59839849-59839849 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.495G>C; p.Q165H; 17:59765051-59765051 |
thyroid | carcinoma | Substitution - Missense |
c.495G>C; p.Q165H; 17:59765051-59765051 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1089G>T; p.W363C; 17:59839779-59839779 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.1009C>T; p.P337S; 17:59838329-59838329 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.913-1G>A; p.?; 17:59817711-59817711 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1045C>T; p.L349F; 17:59838365-59838365 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1105G>C; p.E369Q; 17:59839795-59839795 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105G>C; p.E369Q; 17:59839795-59839795 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105G>C; p.E369Q; 17:59839795-59839795 |
central_nervous_system; posterior_fossa | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1105G>C; p.E369Q; 17:59839795-59839795 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.767G>C; p.G256A; 17:59808848-59808848 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.536C>A; p.S179Y; 17:59765092-59765092 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.536C>A; p.S179Y; 17:59765092-59765092 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.601G>A; p.G201R; 17:59773772-59773772 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |