| Gene ID | 972 |
| Symbol | CD74 |
| Synonymous | DHLAG|HLADG|II|Ia-GAMMA |
| Full name | CD74 molecule, major histocompatibility complex, class II invariant chain |
| Gene description | CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)|HLA class II histocompatibility antigen gamma chain|HLA-DR antigens-associated invariant chain|HLA-DR-gamma|Ia-associated invariant chain|MHC HLA-DR gamm |
| Cytoband | 5q32 |
| Gene type | protein-coding |
| Synonymous | MIM:142790; HGNC:HGNC:1697; Ensembl:ENSG00000019582; HPRD:00825; Vega:OTTHUMG00000163559 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.281G>A; p.R94H; 5:150407169-150407169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.299-1G>T; p.?; 5:150406961-150406961 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.311T>C; p.V104A; 5:150406948-150406948 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.64G>A; p.D22N; 5:150412686-150412686 |
skin | malignant_melanoma | Substitution - Missense |
c.349G>T; p.A117S; 5:150406910-150406910 |
skin | malignant_melanoma | Substitution - Missense |
c.2T>A; p.M1K; 5:150412748-150412748 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.338T>C; p.L113P; 5:150406921-150406921 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.35A>G; p.D12G; 5:150412715-150412715 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.18C>G; p.S6R; 5:150412732-150412732 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.342G>A; p.L114L; 5:150406917-150406917 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.351G>A; p.A117A; 5:150406908-150406908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.289C>T; p.L97F; 5:150407161-150407161 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.252C>A; p.T84T; 5:150407198-150407198 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.252C>A; p.T84T; 5:150407198-150407198 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.252C>A; p.T84T; 5:150407198-150407198 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.98T>A; p.L33Q; 5:150412652-150412652 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.393C>A; p.A131A; 5:150406307-150406307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.51G>A; p.M17I; 5:150412699-150412699 |
skin | malignant_melanoma | Substitution - Missense |
c.12_14delGAG; p.R5delR; 5:150412736-150412738 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.334C>T; p.P112S; 5:150406925-150406925 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.147G>A; p.L49L; 5:150407303-150407303 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.28C>T; p.R10W; 5:150412722-150412722 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.28C>T; p.R10W; 5:150412722-150412722 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.28C>T; p.R10W; 5:150412722-150412722 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.456G>A; p.W152*; 5:150402611-150402611 |
thyroid | carcinoma | Substitution - Nonsense |
c.256C>T; p.Q86*; 5:150407194-150407194 |
skin | malignant_melanoma | Substitution - Nonsense |
c.30G>C; p.R10R; 5:150412720-150412720 |
ovary | other; neoplasm | Substitution - coding silent |
c.52G>C; p.D18H; 5:150412698-150412698 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.14G>A; p.R5K; 5:150412736-150412736 |
skin | malignant_melanoma | Substitution - Missense |