| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3105 |
Name | HLA-A |
Synonymous | HLAA;major histocompatibility complex, class I, A;HLA-A;major histocompatibility complex, class I, A |
Definition | HLA class I histocompatibility antigen, A-1 alpha chain|MHC class I antigen HLA-A heavy chain|antigen presenting molecule|leukocyte antigen class I-A |
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-A | ||
PCGP somatic mutation [Top] | ||
There is no record for HLA-A | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.282G>C; p.Q94H; |
liver | carcinoma; hepatocellular_carcinoma |
c.257delA; p.Q86fs*6; |
NS | malignant_melanoma |
c.98T>C; p.F33S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.539T>A; p.L180*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.232C>T; p.Q78*; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.349C>T; p.H117Y; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.675G>C; p.L225L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.360G>C; p.Q120H; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.15_16insC; p.R7fs*92; |
liver | carcinoma |
c.992T>G; p.M331R; |
liver | carcinoma |
c.1033A>T; p.T345S; |
liver | carcinoma |
c.763G>A; p.V255M; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.171C>G; p.F57L; |
lung | carcinoma; adenocarcinoma |
c.620-1G>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.147G>C; p.V49V; |
lung | carcinoma; adenocarcinoma |
c.147G>C; p.V49V; |
lung | carcinoma; adenocarcinoma |
c.606G>A; p.T202T; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.919C>T; p.P307S; |
skin; extremity | malignant_melanoma |
c.327C>A; p.Y109*; |
autonomic_ganglia | neuroblastoma |
c.605C>T; p.T202M; |
prostate | adenoma |
c.624C>A; p.P208P; |
lung | carcinoma; adenocarcinoma |
c.122_137del16; p.R41fs*31; 6:30018561-30018576 |
ovary | carcinoma; serous_carcinoma |
c.386C>A; p.S129*; |
lung | carcinoma; squamous_cell_carcinoma |
c.620-1G>A; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.233A>G; p.Q78R; |
lung | carcinoma; squamous_cell_carcinoma |
c.893G>A; p.W298*; |
lung | carcinoma; squamous_cell_carcinoma |
c.699C>A; p.Y233*; |
lung | carcinoma; squamous_cell_carcinoma |
c.360G>C; p.Q120H; |
lung | carcinoma; squamous_cell_carcinoma |
c.493C>T; p.Q165*; |
lung | carcinoma; adenocarcinoma |
c.127G>T; p.E43*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.896-1G>C; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.684G>A; p.W228*; |
lung | carcinoma; squamous_cell_carcinoma |
c.147G>C; p.V49V; |
lung | carcinoma; adenocarcinoma |
c.233A>G; p.Q78R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.233A>G; p.Q78R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.750delG; p.D251fs*46; |
breast | carcinoma |
c.162C>T; p.D54D; |
breast | carcinoma |
c.155T>C; p.V52A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.16delC; p.R7fs*13; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.232C>T; p.Q78*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.162C>T; p.D54D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.142G>T; p.A48S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.570G>C; p.E190D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.571T>G; p.W191G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.147G>C; p.V49V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.142G>T; p.A48S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.750delG; p.D251fs*46; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.112C>T; p.R38W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.144C>A; p.A48A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.621delC; p.K210fs*4; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1072G>A; p.V358M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.750delG; p.D251fs*46; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.477_481delGGCGG; p.A160fs*15; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.242C>T; p.P81L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.299T>A; p.V100E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.704C>T; p.A235V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.482A>C; p.D161A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.48C>T; p.A16A; |
breast | carcinoma |
c.144C>A; p.A48A; |
breast | carcinoma |
c.270T>A; p.N90K; |
breast | carcinoma |
c.292G>C; p.D98H; |
breast | carcinoma |
c.646C>T; p.H216Y; |
breast | carcinoma |
c.78C>T; p.S26S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.394C>T; p.R132C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.750delG; p.D251fs*46; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.440A>G; p.Y147C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.595G>A; p.G199R; |
breast | carcinoma |
c.6C>T; p.A2A; |
breast | carcinoma |
c.233A>G; p.Q78R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.613C>T; p.R205C; |
urinary_tract; bladder | carcinoma |
c.1097G>T; p.*366L; |
urinary_tract; bladder | carcinoma |
c.750delG; p.D251fs*46; |
breast | carcinoma |
c.1005G>C; p.K335N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.162C>T; p.D54D; |
prostate | carcinoma; adenocarcinoma |
c.162C>T; p.D54D; |
prostate | carcinoma; adenocarcinoma |
c.147G>C; p.V49V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.621delC; p.K210fs*4; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.428A>G; p.D143G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.750delG; p.D251fs*46; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.171C>T; p.F57F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.110_114delCCCGG; p.G40fs*57; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.406G>A; p.G136R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.127G>T; p.E43*; |
cervix | carcinoma; squamous_cell_carcinoma |
c.233A>G; p.Q78R; |
urinary_tract; bladder | carcinoma |
c.233A>G; p.Q78R; |
urinary_tract; bladder | carcinoma |
c.893G>A; p.W298*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.621delC; p.K210fs*4; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.951C>A; p.L317L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.956G>T; p.G319V; |
large_intestine; colon | carcinoma; adenocarcinoma |