| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 9587 |
Name | MAD2L1BP |
Synonymous | MAD2L1 binding protein;MAD2L1BP;MAD2L1 binding protein |
Definition | MAD2L1-binding protein|caught by MAD2 protein |
Position | 6p21.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.47-1G>T; p.?; 6:43636380-43636380 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.271T>C; p.Y91H; 6:43636605-43636605 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.537G>C; p.Q179H; 6:43640245-43640245 |
breast | carcinoma | Substitution - Missense |
c.459_460CC>TT; p.L154F; 6:43640167-43640168 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.629G>A; p.G210D; 6:43640337-43640337 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.414G>T; p.L138L; 6:43640122-43640122 |
liver | carcinoma | Substitution - coding silent |
c.158A>C; p.D53A; 6:43636492-43636492 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.378A>C; p.Q126H; 6:43640086-43640086 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.600T>C; p.F200F; 6:43640308-43640308 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.405C>T; p.L135L; 6:43640113-43640113 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.632C>T; p.T211I; 6:43640340-43640340 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.497A>G; p.E166G; 6:43640205-43640205 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.443C>T; p.P148L; 6:43640151-43640151 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.423C>G; p.F141L; 6:43640131-43640131 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.670G>C; p.D224H; 6:43640378-43640378 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.196C>T; p.Q66*; 6:43636530-43636530 |
pancreas | carcinoma | Substitution - Nonsense |
c.357G>A; p.V119V; 6:43640065-43640065 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.655C>A; p.R219S; 6:43640363-43640363 |
skin | malignant_melanoma | Substitution - Missense |
c.103G>C; p.E35Q; 6:43636437-43636437 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.66G>A; p.K22K; 6:43636400-43636400 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.69C>T; p.S23S; 6:43636403-43636403 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.778T>A; p.Y260N; 6:43640486-43640486 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.721C>T; p.L241L; 6:43640429-43640429 |
thyroid | other; neoplasm | Substitution - coding silent |
c.244T>C; p.Y82H; 6:43636578-43636578 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |