| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6657 |
Name | SOX2 |
Synonymous | ANOP3|MCOPS3;SRY (sex determining region Y)-box 2;SOX2;SRY (sex determining region Y)-box 2 |
Definition | SRY-related HMG-box gene 2|transcription factor SOX-2|transcription factor SOX2 |
Position | 3q26.3-q27 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SOX2 | ||
PCGP somatic mutation [Top] | ||
There is no record for SOX2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.859G>A; p.A287T; |
oesophagus | carcinoma; adenocarcinoma |
c.954A>G; p.*318W; |
liver | carcinoma |
c.919G>C; p.A307P; |
NS | NS |
c.91G>T; p.G31C; |
lung | carcinoma; adenocarcinoma |
c.656G>T; p.G219V; |
lung | carcinoma; adenocarcinoma |
c.630G>C; p.M210I; |
skin; extremity | malignant_melanoma |
c.337C>T; p.R113W; |
pancreas | carcinoma; ductal_carcinoma |
c.133A>T; p.M45L; |
lung | carcinoma; squamous_cell_carcinoma |
c.430G>C; p.G144R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.684G>A; p.S228S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.257A>G; p.E86G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.228C>T; p.G76G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.660G>C; p.S220S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.602A>G; p.D201G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.297G>A; p.A99A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.644C>T; p.T215I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.111C>T; p.S37S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.452C>T; p.A151V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.698C>A; p.P233H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.829T>C; p.Y277H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.654C>T; p.N218N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.355C>T; p.L119F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.803G>C; p.G268A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.201C>A; p.H67Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.472G>A; p.D158N; |
cervix | carcinoma; squamous_cell_carcinoma |
c.250G>A; p.E84K; |
breast | carcinoma |
c.160G>A; p.G54R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.805G>T; p.D269Y; |
urinary_tract; bladder | carcinoma |