| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 4085 |
Name | MAD2L1 |
Synonymous | MAD2 mitotic arrest deficient-like 1 (yeast);MAD2L1;MAD2 mitotic arrest deficient-like 1 (yeast) |
Definition | MAD2 (mitotic arrest deficient, yeast, homolog)-like 1|MAD2-like protein 1|mitotic arrest deficient 2-like protein 1|mitotic arrest deficient, yeast, homolog-like 1|mitotic spindle assembly checkpoint protein MAD2A |
Position | 4q27 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.416T>C; p.V139A; 4:120060903-120060903 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.250C>T; p.L84L; 4:120062066-120062066 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.514C>A; p.P172T; 4:120060222-120060222 |
breast | carcinoma | Substitution - Missense |
c.230A>T; p.Y77F; 4:120062086-120062086 |
breast | carcinoma | Substitution - Missense |
c.449C>A; p.S150*; 4:120060287-120060287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.384C>T; p.I128I; 4:120060935-120060935 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.604C>T; p.P202S; 4:120060132-120060132 |
skin | malignant_melanoma | Substitution - Missense |
c.482T>G; p.L161W; 4:120060254-120060254 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.398G>A; p.R133K; 4:120060921-120060921 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.554C>A; p.S185*; 4:120060182-120060182 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.583A>G; p.S195G; 4:120060153-120060153 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.407C>T; p.T136I; 4:120060912-120060912 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.429A>G; p.P143P; 4:120060890-120060890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.272T>A; p.I91N; 4:120062044-120062044 |
breast | carcinoma | Substitution - Missense |
c.342-6delT; p.?; 4:120060983-120060983 |
liver | carcinoma | Unknown |
c.572A>G; p.H191R; 4:120060164-120060164 |
oesophagus | carcinoma | Substitution - Missense |
c.81C>T; p.G27G; 4:120065811-120065811 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.69C>T; p.F23F; 4:120066666-120066666 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.32T>A; p.I11N; 4:120066703-120066703 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.438A>T; p.E146D; 4:120060881-120060881 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.417G>C; p.V139V; 4:120060902-120060902 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.146A>G; p.Y49C; 4:120065746-120065746 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.133C>T; p.R45*; 4:120065759-120065759 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.327T>G; p.T109T; 4:120061989-120061989 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.163G>C; p.V55L; 4:120065729-120065729 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.208G>A; p.E70K; 4:120065684-120065684 |
breast | carcinoma | Substitution - Missense |
c.617G>T; p.*206L; 4:120060119-120060119 |
lung | carcinoma; squamous_cell_carcinoma | Nonstop extension |
c.73+8C>A; p.?; 4:120066654-120066654 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.607G>A; p.V203I; 4:120060129-120060129 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.499T>G; p.W167G; 4:120060237-120060237 |
ovary | other; neoplasm | Substitution - Missense |
c.69C>A; p.F23L; 4:120066666-120066666 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.69C>A; p.F23L; 4:120066666-120066666 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.141G>A; p.Q47Q; 4:120065751-120065751 |
breast | carcinoma | Substitution - coding silent |
c.445T>C; p.C149R; 4:120060874-120060874 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.43G>A; p.G15R; 4:120066692-120066692 |
urinary_tract; bladder | carcinoma | Substitution - Missense |