| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 84868 |
Name | HAVCR2 |
Synonymous | hepatitis A virus cellular receptor 2;HAVCR2;hepatitis A virus cellular receptor 2 |
Definition | T cell immunoglobulin mucin 3|T cell immunoglobulin mucin-3|T-cell immunoglobulin and mucin domain-containing protein 3|T-cell immunoglobulin mucin family member 3|T-cell immunoglobulin mucin receptor 3|T-cell membrane protein 3|kidney injury molecule-3 |
Position | 5q33.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.221A>G; p.D74G; 5:157106800-157106800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.661G>T; p.A221S; 5:157095321-157095321 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.556T>A; p.S186T; 5:157095426-157095426 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.166G>A; p.G56R; 5:157106855-157106855 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.649C>G; p.L217V; 5:157095333-157095333 |
oesophagus | carcinoma | Substitution - Missense |
c.328T>A; p.C110S; 5:157106693-157106693 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.576A>T; p.L192F; 5:157095406-157095406 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.41T>C; p.L14P; 5:157108943-157108943 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.186A>G; p.E62E; 5:157106835-157106835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.861G>C; p.R287S; 5:157087147-157087147 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.271G>A; p.G91R; 5:157106750-157106750 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.550C>T; p.R184W; 5:157095432-157095432 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.766G>A; p.E256K; 5:157087242-157087242 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.475C>A; p.P159T; 5:157104669-157104669 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.766G>A; p.E256K; 5:157087242-157087242 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.257G>T; p.G86V; 5:157106764-157106764 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.168A>G; p.G56G; 5:157106853-157106853 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.16C>T; p.P6S; 5:157108968-157108968 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.425G>A; p.R142K; 5:157104719-157104719 |
skin | malignant_melanoma | Substitution - Missense |
c.372C>T; p.N124N; 5:157106649-157106649 |
prostate | carcinoma | Substitution - coding silent |
c.290T>C; p.I97T; 5:157106731-157106731 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.130G>A; p.A44T; 5:157106891-157106891 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.175C>T; p.P59S; 5:157106846-157106846 |
skin | malignant_melanoma | Substitution - Missense |
c.130G>A; p.A44T; 5:157106891-157106891 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.489G>T; p.Q163H; 5:157098891-157098891 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.266G>A; p.R89H; 5:157106755-157106755 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.745G>T; p.G249*; 5:157087263-157087263 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.60G>A; p.R20R; 5:157106961-157106961 |
skin | malignant_melanoma | Substitution - coding silent |
c.867A>G; p.Q289Q; 5:157087141-157087141 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.36G>T; p.L12L; 5:157108948-157108948 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.776G>T; p.R259L; 5:157087232-157087232 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.705G>A; p.Q235Q; 5:157088949-157088949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.83C>T; p.A28V; 5:157106938-157106938 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.83C>T; p.A28V; 5:157106938-157106938 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.478G>A; p.A160T; 5:157104666-157104666 |
skin | malignant_melanoma | Substitution - Missense |
c.195C>T; p.N65N; 5:157106826-157106826 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.801T>C; p.I267I; 5:157087207-157087207 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.45_47delGCT; p.L18delL; 5:157108937-157108939 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.427G>T; p.D143Y; 5:157104717-157104717 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.144C>A; p.L48L; 5:157106877-157106877 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.594C>T; p.T198T; 5:157095388-157095388 |
bone; vertebrae | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.71T>G; p.V24G; 5:157106950-157106950 |
breast | carcinoma | Substitution - Missense |
c.276delT; p.D92fs*4; 5:157106745-157106745 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.368T>G; p.F123C; 5:157106653-157106653 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.128C>T; p.A43V; 5:157106893-157106893 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.584C>G; p.S195C; 5:157095398-157095398 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.45G>A; p.L15L; 5:157108939-157108939 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.321C>A; p.I107I; 5:157106700-157106700 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.206G>A; p.R69K; 5:157106815-157106815 |
skin | malignant_melanoma | Substitution - Missense |
c.775C>T; p.R259C; 5:157087233-157087233 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.779C>A; p.S260*; 5:157087229-157087229 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.58A>C; p.R20R; 5:157108926-157108926 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.245A>G; p.Y82C; 5:157106776-157106776 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.337C>A; p.Q113K; 5:157106684-157106684 |
skin | malignant_melanoma | Substitution - Missense |
c.449G>T; p.R150M; 5:157104695-157104695 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.449G>T; p.R150M; 5:157104695-157104695 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.593C>T; p.T198I; 5:157095389-157095389 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.124C>T; p.P42S; 5:157106897-157106897 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.838T>C; p.Y280H; 5:157087170-157087170 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.220G>T; p.D74Y; 5:157106801-157106801 |
breast | carcinoma | Substitution - Missense |
c.137G>A; p.G46E; 5:157106884-157106884 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.384C>A; p.V128V; 5:157106637-157106637 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.176C>T; p.P59L; 5:157106845-157106845 |
skin | malignant_melanoma | Substitution - Missense |
c.784G>A; p.E262K; 5:157087224-157087224 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.825G>T; p.E275D; 5:157087183-157087183 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.261T>G; p.D87E; 5:157106760-157106760 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.136G>T; p.G46W; 5:157106885-157106885 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.475_476CC>TT; p.P159L; 5:157104668-157104669 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.740C>T; p.P247L; 5:157087268-157087268 |
skin | malignant_melanoma | Substitution - Missense |
c.661G>A; p.A221T; 5:157095321-157095321 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.343C>G; p.P115A; 5:157106678-157106678 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.90C>T; p.V30V; 5:157106931-157106931 |
prostate | carcinoma | Substitution - coding silent |
c.615C>T; p.I205I; 5:157095367-157095367 |
skin | malignant_melanoma | Substitution - coding silent |
c.739C>T; p.P247S; 5:157087269-157087269 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.615C>T; p.I205I; 5:157095367-157095367 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.683C>A; p.S228Y; 5:157088971-157088971 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.381G>T; p.L127F; 5:157106640-157106640 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.893T>A; p.F298Y; 5:157087115-157087115 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.S241F; 5:157087286-157087286 |
skin | malignant_melanoma | Substitution - Missense |
c.722C>T; p.S241F; 5:157087286-157087286 |
skin | malignant_melanoma | Substitution - Missense |
c.253A>C; p.N85H; 5:157106768-157106768 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.253A>C; p.N85H; 5:157106768-157106768 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.153C>T; p.V51V; 5:157106868-157106868 |
skin | malignant_melanoma | Substitution - coding silent |
c.890G>A; p.R297H; 5:157087118-157087118 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.677-4C>A; p.?; 5:157088981-157088981 |
liver | carcinoma | Unknown |
c.677-4C>A; p.?; 5:157088981-157088981 |
liver | carcinoma | Unknown |
c.63C>A; p.S21S; 5:157106958-157106958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.414G>T; p.P138P; 5:157104730-157104730 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.354G>A; p.M118I; 5:157106667-157106667 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.102C>T; p.A34A; 5:157106919-157106919 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.426A>G; p.R142R; 5:157104718-157104718 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.102delC; p.Y35fs*41; 5:157106919-157106919 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.660C>T; p.G220G; 5:157095322-157095322 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.660C>T; p.G220G; 5:157095322-157095322 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.578G>A; p.R193Q; 5:157095404-157095404 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.231T>C; p.Y77Y; 5:157106790-157106790 |
liver | carcinoma | Substitution - coding silent |
c.231T>C; p.Y77Y; 5:157106790-157106790 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.294G>T; p.E98D; 5:157106727-157106727 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.223G>T; p.V75L; 5:157106798-157106798 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.265C>T; p.R89C; 5:157106756-157106756 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.265C>T; p.R89C; 5:157106756-157106756 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.464G>T; p.R155M; 5:157104680-157104680 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |