| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 64114 |
Name | TMBIM1 |
Synonymous | transmembrane BAX inhibitor motif containing 1;TMBIM1;transmembrane BAX inhibitor motif containing 1 |
Definition | protein lifeguard 3|transmembrane BAX inhibitor motif-containing protein 1 |
Position | 2q35 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.676C>A; p.L226M; 2:218277063-218277063 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.473+9C>T; p.?; 2:218278506-218278506 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.284G>A; p.R95Q; 2:218280045-218280045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.826C>T; p.R276W; 2:218275585-218275585 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.141C>T; p.Y47Y; 2:218282001-218282001 |
breast | carcinoma | Substitution - coding silent |
c.641T>G; p.V214G; 2:218277098-218277098 |
breast | carcinoma | Substitution - Missense |
c.846C>G; p.P282P; 2:218275565-218275565 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.441C>T; p.T147T; 2:218278547-218278547 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.923G>C; p.G308A; 2:218275488-218275488 |
NS | malignant_melanoma | Substitution - Missense |
c.718G>A; p.V240M; 2:218277021-218277021 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.432C>G; p.F144L; 2:218278556-218278556 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.929G>A; p.R310H; 2:218275482-218275482 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.929G>A; p.R310H; 2:218275482-218275482 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.523A>G; p.M175V; 2:218277661-218277661 |
breast | carcinoma | Substitution - Missense |
c.857T>C; p.I286T; 2:218275554-218275554 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.711T>A; p.T237T; 2:218277028-218277028 |
breast | carcinoma | Substitution - coding silent |
c.321C>A; p.S107S; 2:218279336-218279336 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.440C>A; p.T147N; 2:218278548-218278548 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.406G>A; p.V136I; 2:218279054-218279054 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.382G>A; p.A128T; 2:218279078-218279078 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.62C>T; p.P21L; 2:218282080-218282080 |
thyroid | other; neoplasm | Substitution - Missense |
c.236C>T; p.A79V; 2:218280093-218280093 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.231G>T; p.E77D; 2:218280098-218280098 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.459C>A; p.C153*; 2:218278529-218278529 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.424G>A; p.A142T; 2:218278564-218278564 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.478C>T; p.R160C; 2:218277970-218277970 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.682A>G; p.I228V; 2:218277057-218277057 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.827G>A; p.R276Q; 2:218275584-218275584 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.552-1G>C; p.?; 2:218277454-218277454 |
cervix | carcinoma; squamous_cell_carcinoma | Unknown |
c.801C>T; p.Y267Y; 2:218275610-218275610 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |