| Gene ID | 3694 |
| Symbol | ITGB6 |
| Synonymous | AI1H |
| Full name | integrin, beta 6 |
| Gene description | integrin beta-6 |
| Cytoband | 2q24.2 |
| Gene type | protein-coding |
| Synonymous | MIM:147558; HGNC:HGNC:6161; Ensembl:ENSG00000115221; HPRD:00947; Vega:OTTHUMG00000132026 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.970G>A; p.V324M; 2:160169259-160169259 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.970G>A; p.V324M; 2:160169259-160169259 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.958G>T; p.V320L; 2:160169271-160169271 |
liver | carcinoma | Substitution - Missense |
c.1320_1321insT; p.G441fs*51; 2:160137773-160137774 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.921G>C; p.L307F; 2:160172569-160172569 |
ovary | other; neoplasm | Substitution - Missense |
c.2064T>C; p.N688N; 2:160112117-160112117 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2267C>T; p.T756M; 2:160107680-160107680 |
pancreas | carcinoma | Substitution - Missense |
c.93T>C; p.C31C; 2:160199227-160199227 |
breast | carcinoma | Substitution - coding silent |
c.2246G>A; p.R749Q; 2:160107701-160107701 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1927G>A; p.E643K; 2:160123845-160123845 |
liver | carcinoma | Substitution - Missense |
c.1927G>A; p.E643K; 2:160123845-160123845 |
liver | carcinoma | Substitution - Missense |
c.898G>A; p.E300K; 2:160172592-160172592 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.142-9C>A; p.?; 2:160196429-160196429 |
pancreas | carcinoma | Unknown |
c.441C>T; p.D147D; 2:160195521-160195521 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2029G>T; p.E677*; 2:160112152-160112152 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.783C>T; p.D261D; 2:160172707-160172707 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.783C>T; p.D261D; 2:160172707-160172707 |
thyroid | other; neoplasm | Substitution - coding silent |
c.825T>C; p.H275H; 2:160172665-160172665 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1522C>T; p.H508Y; 2:160137572-160137572 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1813A>C; p.T605P; 2:160126449-160126449 |
skin | malignant_melanoma | Substitution - Missense |
c.1522C>T; p.H508Y; 2:160137572-160137572 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.801C>T; p.V267V; 2:160172689-160172689 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1930G>T; p.E644*; 2:160123842-160123842 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1930G>T; p.E644*; 2:160123842-160123842 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.922G>A; p.E308K; 2:160169307-160169307 |
skin | malignant_melanoma | Substitution - Missense |
c.1740G>A; p.T580T; 2:160126522-160126522 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1460G>A; p.G487E; 2:160137634-160137634 |
prostate | adenoma | Substitution - Missense |
c.1727G>T; p.C576F; 2:160126535-160126535 |
breast | carcinoma | Substitution - Missense |
c.1479C>T; p.G493G; 2:160137615-160137615 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.225C>T; p.I75I; 2:160196337-160196337 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1206C>G; p.H402Q; 2:160138101-160138101 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.151C>T; p.H51Y; 2:160196411-160196411 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1694G>A; p.C565Y; 2:160126568-160126568 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.821C>G; p.S274C; 2:160172669-160172669 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717T>G; p.Y573D; 2:160126545-160126545 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1126G>C; p.E376Q; 2:160138181-160138181 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.716C>A; p.P239H; 2:160174017-160174017 |
breast | carcinoma | Substitution - Missense |
c.2215C>A; p.R739S; 2:160107732-160107732 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1394C>T; p.S465F; 2:160137700-160137700 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1429G>T; p.G477W; 2:160137665-160137665 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1375G>T; p.E459*; 2:160137719-160137719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.361C>T; p.L121L; 2:160195601-160195601 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.346G>T; p.G116C; 2:160196216-160196216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2167G>A; p.G723R; 2:160107780-160107780 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.550C>T; p.P184S; 2:160195412-160195412 |
skin | malignant_melanoma | Substitution - Missense |
c.776G>A; p.R259Q; 2:160172714-160172714 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.776G>A; p.R259Q; 2:160172714-160172714 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.2285A>G; p.Y762C; 2:160101818-160101818 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.426C>T; p.S142S; 2:160195536-160195536 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1718A>G; p.Y573C; 2:160126544-160126544 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1633G>A; p.V545M; 2:160137461-160137461 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.503G>A; p.S168N; 2:160195459-160195459 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1115G>A; p.R372Q; 2:160138192-160138192 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>C; p.V133A; 2:160195564-160195564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.665G>T; p.R222I; 2:160174068-160174068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.665G>T; p.R222I; 2:160174068-160174068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1567A>G; p.I523V; 2:160137527-160137527 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.414C>G; p.L138L; 2:160195548-160195548 |
breast | carcinoma | Substitution - coding silent |
c.1023C>T; p.Y341Y; 2:160142066-160142066 |
pancreas | carcinoma | Substitution - coding silent |
c.2330G>A; p.R777K; 2:160101773-160101773 |
skin | malignant_melanoma | Substitution - Missense |
c.1006C>T; p.H336Y; 2:160169223-160169223 |
skin | malignant_melanoma | Substitution - Missense |
c.1782C>T; p.R594R; 2:160126480-160126480 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1782C>T; p.R594R; 2:160126480-160126480 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2186T>G; p.I729S; 2:160107761-160107761 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.550C>A; p.P184T; 2:160195412-160195412 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1255G>A; p.V419M; 2:160137839-160137839 |
ovary | other; neoplasm | Substitution - Missense |
c.158C>G; p.S53C; 2:160196404-160196404 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1781G>A; p.R594H; 2:160126481-160126481 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.583A>G; p.N195D; 2:160195379-160195379 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.239C>T; p.S80F; 2:160196323-160196323 |
skin | malignant_melanoma | Substitution - Missense |
c.1635G>T; p.V545V; 2:160137459-160137459 |
breast | carcinoma | Substitution - coding silent |
c.1910C>T; p.A637V; 2:160123862-160123862 |
breast | carcinoma | Substitution - Missense |
c.2344G>A; p.V782I; 2:160101759-160101759 |
breast | carcinoma | Substitution - Missense |
c.552T>C; p.P184P; 2:160195410-160195410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1754C>T; p.S585F; 2:160126508-160126508 |
breast | carcinoma | Substitution - Missense |
c.1247C>T; p.S416F; 2:160137847-160137847 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1247C>T; p.S416F; 2:160137847-160137847 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1656C>T; p.C552C; 2:160137438-160137438 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1490T>C; p.L497P; 2:160137604-160137604 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2215C>T; p.R739C; 2:160107732-160107732 |
liver | carcinoma | Substitution - Missense |
c.2215C>T; p.R739C; 2:160107732-160107732 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2215C>T; p.R739C; 2:160107732-160107732 |
skin | malignant_melanoma | Substitution - Missense |
c.2215C>T; p.R739C; 2:160107732-160107732 |
skin | malignant_melanoma | Substitution - Missense |
c.2215C>T; p.R739C; 2:160107732-160107732 |
skin | malignant_melanoma | Substitution - Missense |
c.1632C>T; p.C544C; 2:160137462-160137462 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1632C>T; p.C544C; 2:160137462-160137462 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1532G>A; p.C511Y; 2:160137562-160137562 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2215C>T; p.R739C; 2:160107732-160107732 |
skin | malignant_melanoma | Substitution - Missense |
c.2215C>T; p.R739C; 2:160107732-160107732 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1916G>A; p.G639D; 2:160123856-160123856 |
breast | carcinoma | Substitution - Missense |
c.886G>A; p.D296N; 2:160172604-160172604 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.922-1G>A; p.?; 2:160169308-160169308 |
skin | malignant_melanoma | Unknown |
c.2073A>T; p.K691N; 2:160112108-160112108 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.696T>G; p.I232M; 2:160174037-160174037 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2242G>C; p.E748Q; 2:160107705-160107705 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1925G>A; p.R642Q; 2:160123847-160123847 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.1825G>T; p.A609S; 2:160126437-160126437 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1212G>T; p.K404N; 2:160138095-160138095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.584A>G; p.N195S; 2:160195378-160195378 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.708T>C; p.I236I; 2:160174025-160174025 |
liver | carcinoma | Substitution - coding silent |
c.2133C>T; p.I711I; 2:160107814-160107814 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.608T>A; p.F203Y; 2:160174125-160174125 |
liver | carcinoma | Substitution - Missense |
c.1327G>A; p.A443T; 2:160137767-160137767 |
pancreas | carcinoma | Substitution - Missense |
c.583A>T; p.N195Y; 2:160195379-160195379 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.314C>T; p.A105V; 2:160196248-160196248 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.285G>T; p.Q95H; 2:160196277-160196277 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.570A>C; p.P190P; 2:160195392-160195392 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.169G>A; p.E57K; 2:160196393-160196393 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.V286I; 2:160172634-160172634 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1753T>C; p.S585P; 2:160126509-160126509 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2120A>T; p.N707I; 2:160107827-160107827 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.941A>G; p.Q314R; 2:160169288-160169288 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.268C>G; p.L90V; 2:160196294-160196294 |
pancreas | other; adenoma | Substitution - Missense |
c.921G>T; p.L307F; 2:160172569-160172569 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1227G>A; p.M409I; 2:160138080-160138080 |
skin | malignant_melanoma | Substitution - Missense |
c.1227G>A; p.M409I; 2:160138080-160138080 |
skin | malignant_melanoma | Substitution - Missense |
c.1362C>T; p.C454C; 2:160137732-160137732 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2135T>C; p.M712T; 2:160107812-160107812 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1826C>T; p.A609V; 2:160126436-160126436 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.81T>C; p.G27G; 2:160199239-160199239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.811G>A; p.D271N; 2:160172679-160172679 |
skin | malignant_melanoma | Substitution - Missense |
c.1324G>A; p.D442N; 2:160137770-160137770 |
skin | malignant_melanoma | Substitution - Missense |
c.1116delG; p.S373fs*8; 2:160138191-160138191 |
liver | carcinoma | Deletion - Frameshift |
c.876C>T; p.L292L; 2:160172614-160172614 |
skin | malignant_melanoma | Substitution - coding silent |
c.712A>C; p.T238P; 2:160174021-160174021 |
ovary | other; neoplasm | Substitution - Missense |
c.1669G>T; p.D557Y; 2:160126593-160126593 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.718G>A; p.E240K; 2:160174015-160174015 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.515T>C; p.L172P; 2:160195447-160195447 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1257G>A; p.V419V; 2:160137837-160137837 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1734C>A; p.T578T; 2:160126528-160126528 |
liver | carcinoma | Substitution - coding silent |
c.1734C>A; p.T578T; 2:160126528-160126528 |
liver | carcinoma | Substitution - coding silent |
c.2301T>C; p.S767S; 2:160101802-160101802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1826C>A; p.A609D; 2:160126436-160126436 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.551C>T; p.P184L; 2:160195411-160195411 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.760G>A; p.E254K; 2:160172730-160172730 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.431C>T; p.S144F; 2:160195531-160195531 |
skin | malignant_melanoma | Substitution - Missense |
c.1817A>G; p.N606S; 2:160126445-160126445 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1817A>G; p.N606S; 2:160126445-160126445 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.269T>A; p.L90H; 2:160196293-160196293 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1057C>T; p.L353F; 2:160142032-160142032 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1953A>G; p.L651L; 2:160123819-160123819 |
pancreas | carcinoma | Substitution - coding silent |
c.1953A>G; p.L651L; 2:160123819-160123819 |
pancreas | carcinoma | Substitution - coding silent |
c.1953A>G; p.L651L; 2:160123819-160123819 |
pancreas | carcinoma | Substitution - coding silent |
c.2140G>A; p.G714R; 2:160107807-160107807 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.427G>A; p.A143T; 2:160195535-160195535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1409G>A; p.G470E; 2:160137685-160137685 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1756G>A; p.E586K; 2:160126506-160126506 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2313T>C; p.N771N; 2:160101790-160101790 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1180T>A; p.C394S; 2:160138127-160138127 |
liver | carcinoma | Substitution - Missense |
c.1180T>A; p.C394S; 2:160138127-160138127 |
liver | carcinoma | Substitution - Missense |
c.142-1G>A; p.?; 2:160196421-160196421 |
skin | malignant_melanoma | Unknown |
c.590G>A; p.C197Y; 2:160195372-160195372 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1212G>C; p.K404N; 2:160138095-160138095 |
breast | carcinoma | Substitution - Missense |
c.253C>A; p.L85I; 2:160196309-160196309 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1223A>G; p.H408R; 2:160138084-160138084 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.717C>G; p.P239P; 2:160174016-160174016 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - coding silent |
c.717C>G; p.P239P; 2:160174016-160174016 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - coding silent |
c.1443C>T; p.C481C; 2:160137651-160137651 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |