| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 8929 |
Name | PHOX2B |
Synonymous | NBLST2|NBPhox|PMX2B;paired-like homeobox 2b;PHOX2B;paired-like homeobox 2b |
Definition | PHOX2B homeodomain protein|neuroblastoma Phox|neuroblastoma paired-type homeobox protein|paired mesoderm homeobox 2b|paired mesoderm homeobox protein 2B |
Position | 4p12 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PHOX2B | ||
PCGP somatic mutation [Top] | ||
There is no record for PHOX2B | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.188G>T; p.G63V; |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma |
c.634_671del38; p.G216fs*88; 4:41442855-41442892 |
autonomic_ganglia | neuroblastoma |
c.721_755del35; p.A241fs*64; 4:41442771-41442805 |
autonomic_ganglia | neuroblastoma |
c.714_715ins13; p.G239fs*82; 4:41442811-41442812 |
autonomic_ganglia | neuroblastoma |
c.64G>T; p.D22Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.437T>G; p.F146C; 4:41443089-41443089 |
lung | carcinoma; adenocarcinoma |
c.496G>A; p.A166T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.851C>T; p.P284L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.407A>G; p.D136G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.764C>A; p.A255E; |
liver | carcinoma |
c.315C>T; p.F105F; 4:41444237-41444237 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.187G>T; p.G63*; |
large_intestine; colon | carcinoma |
c.667G>C; p.A223P; 4:41442859-41442859 |
autonomic_ganglia | neuroblastoma |
c.104C>T; p.S35F; |
lung | carcinoma; adenocarcinoma |
c.660G>T; p.P220P; |
lung | carcinoma; adenocarcinoma |
c.525G>A; p.K175K; |
lung | carcinoma; adenocarcinoma |
c.188G>A; p.G63E; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.707C>T; p.P236L; |
skin; trunk | malignant_melanoma |
c.874G>A; p.A292T; |
liver | carcinoma |
c.472C>T; p.R158C; |
lung | carcinoma; small_cell_carcinoma |
c.721_740del20; p.A241fs*69; 4:41442786-41442805 |
autonomic_ganglia | neuroblastoma |
c.721_740del20; p.A241fs*69; 4:41442786-41442805 |
autonomic_ganglia | neuroblastoma |
c.721_740del20; p.A241fs*69; 4:41442786-41442805 |
autonomic_ganglia | neuroblastoma |
c.20C>A; p.S7Y; 4:41445365-41445365 |
ovary | carcinoma; serous_carcinoma |
c.137C>A; p.P46Q; |
lung | carcinoma; adenocarcinoma |
c.156G>T; p.G52G; |
lung | carcinoma; adenocarcinoma |
c.874G>A; p.A292T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.334G>C; p.E112Q; 4:41444218-41444218 |
ovary | carcinoma; serous_carcinoma |
c.168C>A; p.G56G; |
lung | carcinoma; squamous_cell_carcinoma |
c.223A>T; p.S75C; |
lung | carcinoma; squamous_cell_carcinoma |
c.796G>A; p.A266T; |
lung | carcinoma; adenocarcinoma |
c.899G>C; p.R300T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.410T>C; p.L137P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.234C>T; p.Y78Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.391C>G; p.L131V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.419C>T; p.A140V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.406G>A; p.D136N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.287G>A; p.R96H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.299G>A; p.R100H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.206C>A; p.T69N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.271G>A; p.G91S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.422G>A; p.R141Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.406G>A; p.D136N; |
breast | carcinoma |
c.330C>A; p.L110L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.126C>A; p.F42L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.513C>A; p.S171S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.28A>G; p.N10D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.624C>T; p.C208C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.596G>T; p.G199V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.487G>A; p.A163T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.473G>A; p.R158H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.629C>T; p.A210V; |
urinary_tract; bladder | carcinoma |
c.504G>A; p.K168K; |
breast | carcinoma |