| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1493 |
Name | CTLA4 |
Synonymous | CD|CD152|CELIAC3|CTLA-4|GRD4|GSE|ICOS|IDDM12;cytotoxic T-lymphocyte-associated protein 4;CTLA4;cytotoxic T-lymphocyte-associated protein 4 |
Definition | CD152 isoform|celiac disease 3|cytotoxic T lymphocyte associated antigen 4 short spliced form|cytotoxic T-lymphocyte antigen 4|cytotoxic T-lymphocyte protein 4|cytotoxic T-lymphocyte-associated antigen 4|cytotoxic T-lymphocyte-associated serine esterase-4 |
Position | 2q33 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CTLA4 | ||
PCGP somatic mutation [Top] | ||
There is no record for CTLA4 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.640C>T; p.Q214*; |
lung | carcinoma; small_cell_carcinoma |
c.305T>C; p.I102T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.331C>G; p.Q111E; |
oesophagus | carcinoma; adenocarcinoma |
c.205G>T; p.V69F; |
lung | carcinoma; adenocarcinoma |
c.159C>T; p.I53I; |
lung | carcinoma; adenocarcinoma |
c.320C>A; p.S107Y; |
lung | carcinoma; adenocarcinoma |
c.472C>T; p.P158S; |
skin; trunk | malignant_melanoma |
c.390G>T; p.K130N; |
autonomic_ganglia | neuroblastoma |
c.503C>A; p.A168E; |
lung | carcinoma; adenocarcinoma |
c.45G>T; p.L15L; |
lung | carcinoma; squamous_cell_carcinoma |
c.671G>T; p.*224L; |
lung | carcinoma; squamous_cell_carcinoma |
c.131C>T; p.A44V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.104G>A; p.C35Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.258G>A; p.A86A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.522_523insT; p.Y177fs*2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.197C>A; p.A66D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.516G>A; p.S172S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.573G>T; p.K191N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.161C>T; p.A54V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.515C>T; p.S172L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.567+1G>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.586C>G; p.L196V; |
breast | carcinoma |
c.495G>A; p.W165*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.522_523insT; p.Y177fs*2; |
skin; mucosal | malignant_melanoma |