| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3107 |
Name | HLA-C |
Synonymous | D6S204|HLA-JY3|HLC-C|PSORS1;major histocompatibility complex, class I, C;HLA-C;major histocompatibility complex, class I, C |
Definition | HLA class I histocompatibility antigen, C alpha chain|HLA class I histocompatibility antigen, Cw-1 alpha chain|MHC class I antigen heavy chain HLA-C|human leukocyte antigen-C alpha chain|major histocompatibility antigen HLA-C |
Position | 6p21.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HLA-C | ||
PCGP somatic mutation [Top] | ||
There is no record for HLA-C | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.362_363GG>AT; p.R121N; 6:31347085-31347086 |
lung | carcinoma; non_small_cell_carcinoma |
c.74-3delc; p.?; |
NS | malignant_melanoma |
c.289G>A; p.A97T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.842A>G; p.Y281C; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.486C>G; p.T162T; |
liver | carcinoma |
c.463C>A; p.R155S; |
skin; trunk | malignant_melanoma; nodular |
c.1042G>A; p.A348T; |
lung | carcinoma; adenocarcinoma |
c.572G>C; p.W191S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.896A>G; p.E299G; |
autonomic_ganglia | neuroblastoma |
c.97G>T; p.D33Y; |
autonomic_ganglia | neuroblastoma |
c.623C>A; p.P208H; |
autonomic_ganglia | neuroblastoma |
c.572G>C; p.W191S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.206G>A; p.G69E; |
prostate | carcinoma |
c.616G>A; p.A206T; |
lung | carcinoma; adenocarcinoma |
c.206G>A; p.G69E; |
lung | carcinoma; adenocarcinoma |
c.827G>T; p.G276V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.958G>T; p.V320F; |
lung | carcinoma; squamous_cell_carcinoma |
c.1075G>A; p.E359K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.206G>A; p.G69E; |
lung | carcinoma; adenocarcinoma |
c.425A>C; p.Y142S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.896A>G; p.E299G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.175C>A; p.R59R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.167A>T; p.Q56L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.589G>A; p.E197K; |
breast | carcinoma |
c.355C>A; p.L119I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.353C>T; p.T118I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.773G>T; p.R258M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.355C>A; p.L119I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.353C>T; p.T118I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.728G>T; p.R243L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.367T>C; p.S123P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.427G>A; p.D143N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.862G>A; p.E288K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.539T>G; p.L180R; |
breast | carcinoma |
c.218C>A; p.A73E; |
breast | carcinoma |
c.361A>G; p.R121G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.106G>A; p.V36M; |
prostate | carcinoma; adenocarcinoma |
c.674T>C; p.L225P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.353C>T; p.T118I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1071T>A; p.S357S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.273C>T; p.Y91Y; |
breast | carcinoma |
c.571T>G; p.W191G; |
prostate | carcinoma; adenocarcinoma |
c.390C>T; p.D130D; |
urinary_tract; bladder | carcinoma |
c.873A>G; p.Q291Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.538C>T; p.L180L; |
prostate | carcinoma; adenocarcinoma |
c.187G>A; p.D63N; |
urinary_tract; bladder | carcinoma |
c.1037C>T; p.S346F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.1015+2T>C; p.?; |
stomach | adenocarcinoma |