| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 3805 |
Name | KIR2DL4 |
Synonymous | killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4;KIR2DL4;killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 |
Definition | CD158 antigen-like family member D|MHC class I NK cell receptor KIR103AS|NK cell receptor|killer Ig receptor|killer cell immunoglobulin-like receptor 2DL4|killer cell inhibitory receptor 103AS|natural killer cell inhibitory receptor |
Position | 19q13.4 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.201G>C; p.G67G; 19:54804917-54804917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.160C>A; p.R54S; 19:54804876-54804876 |
NS | NS | Substitution - Missense |
c.213T>G; p.P71P; 19:54804929-54804929 |
thyroid | other; neoplasm | Substitution - coding silent |
c.115G>A; p.A39T; 19:54804831-54804831 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.115G>A; p.A39T; 19:54804831-54804831 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.810A>C; p.K270N; 19:54813228-54813228 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.48C>T; p.F16F; 19:54803898-54803898 |
skin | malignant_melanoma | Substitution - coding silent |
c.625C>G; p.P209A; 19:54806214-54806214 |
thyroid | other; neoplasm | Substitution - Missense |
c.626C>T; p.P209L; 19:54806215-54806215 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.96C>T; p.F32F; 19:54804812-54804812 |
skin | malignant_melanoma | Substitution - coding silent |
c.301C>T; p.H101Y; 19:54805017-54805017 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.114C>T; p.S38S; 19:54804830-54804830 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.273C>T; p.H91H; 19:54804989-54804989 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.148C>T; p.R50W; 19:54804864-54804864 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.376C>T; p.P126S; 19:54805965-54805965 |
breast | carcinoma | Substitution - Missense |
c.326C>T; p.S109L; 19:54805042-54805042 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.783C>T; p.L261L; 19:54813201-54813201 |
skin | malignant_melanoma | Substitution - coding silent |
c.711C>T; p.I237I; 19:54813129-54813129 |
skin | malignant_melanoma | Substitution - coding silent |
c.497T>A; p.L166H; 19:54806086-54806086 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.712G>C; p.A238P; 19:54813130-54813130 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.61G>T; p.V21L; 19:54803911-54803911 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.802delA; p.M271fs*>3; 19:54813220-54813220 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.762T>C; p.F254F; 19:54813180-54813180 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.762T>C; p.F254F; 19:54813180-54813180 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.762T>C; p.F254F; 19:54813180-54813180 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.762T>C; p.F254F; 19:54813180-54813180 |
breast | carcinoma | Substitution - coding silent |
c.28C>T; p.L10L; 19:54803679-54803679 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.410G>A; p.R137H; 19:54805999-54805999 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.410G>A; p.R137H; 19:54805999-54805999 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.497T>G; p.L166R; 19:54806086-54806086 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.497T>G; p.L166R; 19:54806086-54806086 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.810+6C>T; p.?; 19:54813234-54813234 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.55C>A; p.Q19K; 19:54803905-54803905 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.790C>T; p.R264C; 19:54813208-54813208 |
skin | malignant_melanoma | Substitution - Missense |
c.810+4A>G; p.?; 19:54813232-54813232 |
skin | malignant_melanoma | Unknown |
c.412G>A; p.A138T; 19:54806001-54806001 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.412G>A; p.A138T; 19:54806001-54806001 |
breast | carcinoma | Substitution - Missense |
c.412G>A; p.A138T; 19:54806001-54806001 |
thyroid | other; neoplasm | Substitution - Missense |
c.680C>G; p.S227*; 19:54808857-54808857 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.160C>T; p.R54C; 19:54804876-54804876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.160C>T; p.R54C; 19:54804876-54804876 |
large_intestine | adenoma | Substitution - Missense |
c.187T>C; p.Y63H; 19:54804903-54804903 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.509C>A; p.A170E; 19:54806098-54806098 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.377C>T; p.P126L; 19:54805966-54805966 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.377C>T; p.P126L; 19:54805966-54805966 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.764C>T; p.T255I; 19:54813182-54813182 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.480delG; p.E162fs*83; 19:54806069-54806069 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.411C>T; p.R137R; 19:54806000-54806000 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.149G>A; p.R50Q; 19:54804865-54804865 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.149G>A; p.R50Q; 19:54804865-54804865 |
prostate | carcinoma | Substitution - Missense |
c.149G>A; p.R50Q; 19:54804865-54804865 |
skin | malignant_melanoma | Substitution - Missense |
c.182C>T; p.T61M; 19:54804898-54804898 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.182C>T; p.T61M; 19:54804898-54804898 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.345G>T; p.L115L; 19:54805061-54805061 |
liver | carcinoma | Substitution - coding silent |
c.345G>T; p.L115L; 19:54805061-54805061 |
liver | carcinoma | Substitution - coding silent |
c.149G>A; p.R50Q; 19:54804865-54804865 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>A; p.A187T; 19:54806148-54806148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.38T>A; p.L13H; 19:54803689-54803689 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.183G>C; p.T61T; 19:54804899-54804899 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |