| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5076 |
Name | PAX2 |
Synonymous | -;paired box 2;PAX2;paired box 2 |
Definition | paired box homeotic gene 2|paired box protein Pax-2 |
Position | 10q24 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PAX2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
PAX2_L58Q; chr10; 102509632 |
SUB; MISSENSE; T; T/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.689C>G; p.A230G; |
NS | NS |
c.1127G>A; p.R376H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.739C>T; p.R247C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.607C>T; p.R203C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.173T>A; p.L58Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.602G>T; p.R201M; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.944T>C; p.L315P; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.509C>A; p.A170D; |
liver | carcinoma; hepatocellular_carcinoma |
c.350G>A; p.R117Q; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.310C>A; p.R104R; |
lung | carcinoma; adenocarcinoma |
c.727C>T; p.R243W; |
lung | carcinoma; adenocarcinoma |
c.141G>T; p.Q47H; |
lung | carcinoma; adenocarcinoma |
c.811C>A; p.P271T; |
lung | carcinoma; adenocarcinoma |
c.933G>A; p.A311A; |
prostate | carcinoma |
c.634G>A; p.V212I; |
lung | carcinoma; small_cell_carcinoma |
c.885C>A; p.N295K; |
lung | carcinoma; squamous_cell_carcinoma |
c.22G>C; p.D8H; |
lung | carcinoma; squamous_cell_carcinoma |
c.654G>C; p.Q218H; |
lung | carcinoma; squamous_cell_carcinoma |
c.929T>A; p.M310K; |
lung | carcinoma; adenocarcinoma |
c.959C>T; p.P320L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.443A>T; p.H148L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.55G>A; p.G19S; |
lung | carcinoma; adenocarcinoma |
c.106G>C; p.V36L; |
lung | carcinoma; adenocarcinoma |
c.96C>T; p.P32P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.696C>G; p.T232T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.87C>T; p.N29N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.394G>A; p.V132I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.673C>T; p.R225W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.923G>A; p.R308H; |
breast | carcinoma |
c.567G>A; p.G189G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.991C>A; p.P331T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.674G>A; p.R225Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.535A>G; p.N179D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.832G>A; p.D278N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.610G>A; p.D204N; |
skin | malignant_melanoma |
c.727C>T; p.R243W; |
skin; scalp | malignant_melanoma |
c.989A>G; p.Y330C; |
skin | malignant_melanoma |
c.1064G>A; p.G355E; |
skin | malignant_melanoma |
c.686G>A; p.R229Q; |
skin; mucosal | malignant_melanoma |
c.602G>A; p.R201K; |
skin; mucosal | malignant_melanoma |
c.566G>A; p.G189E; |
skin; mucosal | malignant_melanoma |
c.269_270insT; p.A91fs*11; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.268_269insT; p.A91fs*11; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |