| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 401 |
Name | PHOX2A |
Synonymous | ARIX|CFEOM2|FEOM2|NCAM2|PMX2A;paired-like homeobox 2a;PHOX2A;paired-like homeobox 2a |
Definition | ARIX1 homeodomain protein|aristaless homeobox homolog|aristaless homeobox protein homolog|arix homeodomain protein|paired mesoderm homeobox protein 2A |
Position | 11q13.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PHOX2A | ||
PCGP somatic mutation [Top] | ||
There is no record for PHOX2A | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.316G>C; p.E106Q; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.328G>A; p.A110T; |
lung | carcinoma; small_cell_carcinoma |
c.776C>G; p.S259C; |
lung | carcinoma; adenocarcinoma |
c.633C>A; p.P211P; |
lung | carcinoma; adenocarcinoma |
c.347A>C; p.D116A; |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.391G>A; p.E131K; |
lung | carcinoma; squamous_cell_carcinoma |
c.372G>T; p.A124A; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.263G>A; p.R88H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.371C>T; p.A124V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.220C>A; p.P74T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.764A>G; p.Q255R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.777C>T; p.S259S; |
urinary_tract; bladder | carcinoma |
c.321C>T; p.R107R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.299C>T; p.A100V; |
large_intestine; colon | carcinoma; adenocarcinoma |