| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7849 |
Name | PAX8 |
Synonymous | -;paired box 8;PAX8;paired box 8 |
Definition | paired box protein Pax-8|paired domain gene 8 |
Position | 2q13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PAX8 | ||
PCGP somatic mutation [Top] | ||
There is no record for PAX8 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.516G>C; p.Q172H; |
lung | carcinoma; adenocarcinoma |
c.761A>G; p.H254R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.720T>G; p.F240L; |
liver | carcinoma; hepatocellular_carcinoma |
c.1242C>T; p.S414S; |
oesophagus | carcinoma; adenocarcinoma |
c.1137C>A; p.P379P; |
oesophagus | carcinoma; adenocarcinoma |
c.7C>T; p.H3Y; |
oesophagus | carcinoma; adenocarcinoma |
c.135C>A; p.C45*; |
lung | carcinoma; adenocarcinoma |
c.993T>A; p.D331E; |
lung | carcinoma; adenocarcinoma |
c.433G>A; p.D145N; |
skin; extremity | malignant_melanoma |
c.73C>T; p.P25S; |
liver | carcinoma |
c.788C>T; p.P263L; |
liver | carcinoma |
c.380C>T; p.S127F; |
kidney | carcinoma; renal_cell_carcinoma |
c.369C>G; p.P123P; |
lung | carcinoma; adenocarcinoma |
c.1235C>T; p.S412F; |
lung | carcinoma; squamous_cell_carcinoma |
c.777+1G>T; p.?; |
ovary | carcinoma; serous_carcinoma |
c.985T>A; p.F329I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1047C>G; p.A349A; |
lung | carcinoma; squamous_cell_carcinoma |
c.920T>C; p.I307T; |
lung | carcinoma; squamous_cell_carcinoma |
c.491C>A; p.A164D; |
lung | carcinoma; squamous_cell_carcinoma |
c.656C>A; p.P219H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.364G>T; p.V122L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.789G>A; p.P263P; |
breast | carcinoma |
c.619C>A; p.R207R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.538T>C; p.Y180H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.997C>T; p.Q333*; |
breast | carcinoma |
c.246G>T; p.K82N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1243G>A; p.E415K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.640A>C; p.S214R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.318G>T; p.E106D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.860G>A; p.R287H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.816C>T; p.D272D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1090C>T; p.R364*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.481C>T; p.P161S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.78G>A; p.L26L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.578G>T; p.S193I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.249G>A; p.V83V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.989delT; p.L330fs*96; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1116C>T; p.P372P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.457C>A; p.L153M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1051G>A; p.V351M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.199G>A; p.E67K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1181T>C; p.M394T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |