| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 581 |
Name | BAX |
Synonymous | BCL2L4;BCL2-associated X protein;BAX;BCL2-associated X protein |
Definition | apoptosis regulator BAX|bcl-2-like protein 4|bcl2-L-4 |
Position | 19q13.3-q13.4 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BAX | ||
PCGP somatic mutation [Top] | ||
There is no record for BAX | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.280C>T; p.R94*; 19:54151313-54151313 |
lung | carcinoma; adenocarcinoma |
c.109C>T; p.R37*; |
endometrium | carcinoma; serous_carcinoma |
c.338T>C; p.L113P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.373C>A; p.L125M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
pancreas | carcinoma; acinar_carcinoma |
c.114delG; p.E41fs*19; |
liver | carcinoma |
c.120G>A; p.G40G; 19:54150789-54150789 |
skin | malignant_melanoma |
c.71C>T; p.A24V; |
skin; arm | malignant_melanoma |
c.114delG; p.E41fs*19; |
lung | carcinoma; small_cell_carcinoma |
c.29G>A; p.G10D; 19:54150026-54150026 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.353G>T; p.S118I; |
lung | carcinoma; adenocarcinoma |
c.399C>G; p.I133M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.417G>T; p.W139C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.120G>A; p.G40G; 19:54150789-54150789 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.84delG; p.G29fs*31; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.545C>T; p.P182L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.114delG; p.E41fs*19; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.282A>G; p.R94R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.266G>A; p.R89Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.432C>T; p.L144L; |
urinary_tract; bladder | carcinoma |
c.82C>T; p.Q28*; |
urinary_tract; bladder | carcinoma |
c.280C>A; p.R94R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.442C>T; p.L148L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.114delG; p.E41fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.119G>A; p.G40E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.113_114insG; p.E41fs*33; |
breast | carcinoma |
c.113_114insG; p.E41fs*33; |
breast | carcinoma |
c.114delG; p.E41fs*19; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.114delG; p.E41fs*19; |
large_intestine; caecum | carcinoma; adenocarcinoma |