| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1438 |
Name | CSF2RA |
Synonymous | CD116|CDw116|CSF2R|CSF2RAX|CSF2RAY|CSF2RX|CSF2RY|GM-CSF-R-alpha|GMCSFR|GMR|SMDP4;colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage);CSF2RA;colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) |
Definition | CD116 antigen|GM-CSF receptor alpha subunit|GMCSFR-alpha|GMR-alpha|colony stimulating factor 2 receptor alpha subunit|granulocyte-macrophage colony-stimulating factor receptor alpha chain|granulocyte-macrophage colony-stimulating factor receptor subunit a |
Position | Xp22.32 and Yp11.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CSF2RA | ||
PCGP somatic mutation [Top] | ||
There is no record for CSF2RA | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.741G>T; p.S247S; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.513C>T; p.D171D; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.815A>T; p.N272I; |
lung | carcinoma; adenocarcinoma |
c.434C>A; p.P145H; |
lung | carcinoma; adenocarcinoma |
c.730C>A; p.Q244K; |
lung | carcinoma; adenocarcinoma |
c.146G>T; p.W49L; |
lung | carcinoma; adenocarcinoma |
c.94C>A; p.P32T; |
lung | carcinoma; adenocarcinoma |
c.947-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.473+1G>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.566G>A; p.R189H; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.665G>A; p.S222N; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.250C>T; p.R84C; |
skin; extremity | malignant_melanoma |
c.344G>A; p.G115E; |
skin; trunk | malignant_melanoma |
c.676G>A; p.V226I; |
autonomic_ganglia | neuroblastoma |
c.437G>A; p.R146H; 23:1367745-1367745 |
ovary | carcinoma; serous_carcinoma |
c.1110T>A; p.H370Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1182G>C; p.L394F; |
lung | carcinoma; squamous_cell_carcinoma |
c.44A>C; p.H15P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1117G>C; p.E373Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.463C>T; p.R155*; |
lung | carcinoma; squamous_cell_carcinoma |
c.931G>T; p.E311*; 23:1379504-1379504 |
ovary | carcinoma; serous_carcinoma |
c.541G>A; p.D181N; |
ovary | carcinoma; serous_carcinoma |
c.79C>T; p.L27L; |
ovary | carcinoma; serous_carcinoma |
c.77-2A>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.753T>C; p.F251F; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1068C>T; p.F356F; |
lung | carcinoma; adenocarcinoma |
c.528G>A; p.V176V; |
lung | carcinoma; squamous_cell_carcinoma |
c.868G>T; p.A290S; |
lung | carcinoma; adenocarcinoma |
c.482G>A; p.R161K; |
lung | carcinoma; squamous_cell_carcinoma |
c.966C>T; p.L322L; |
lung | carcinoma; adenocarcinoma |
c.405C>T; p.N135N; |
lung | carcinoma; adenocarcinoma |
c.823G>T; p.G275C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.997G>A; p.V333M; |
breast | carcinoma |
c.393G>A; p.A131A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.393G>A; p.A131A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.416C>T; p.A139V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.250C>T; p.R84C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.74C>T; p.S25L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1169G>A; p.R390H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.392C>T; p.A131V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.39A>G; p.L13L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.551C>T; p.S184L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1071G>A; p.P357P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.463C>T; p.R155*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.649C>T; p.R217*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.239C>T; p.S80L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.586G>T; p.G196*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.426G>A; p.P142P; |
breast | carcinoma |
c.813T>C; p.I271I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.973G>C; p.V325L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.30C>A; p.L10L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.231C>T; p.N77N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.511G>T; p.D171Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.397T>G; p.L133V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.74C>T; p.S25L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1200C>A; p.T400T; |
cervix | carcinoma; squamous_cell_carcinoma |
c.275T>A; p.V92D; |
breast | carcinoma |
c.272G>T; p.G91V; |
prostate | carcinoma; adenocarcinoma |