| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 308 |
Name | ANXA5 |
Synonymous | annexin A5;ANXA5;annexin A5 |
Definition | CBP-I|PAP-I|VAC-alpha|anchorin CII|annexin V|annexin-5|calphobindin I|endonexin II|epididymis secretory protein Li 7|lipocortin V|placental anticoagulant protein 4|placental anticoagulant protein I|thromboplastin inhibitor|vascular anticoagulant-alpha |
Position | 4q27 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.638A>G; p.Y213C; 4:121671630-121671630 |
liver | carcinoma | Substitution - Missense |
c.955G>T; p.D319Y; 4:121668476-121668476 |
skin | malignant_melanoma | Substitution - Missense |
c.821T>G; p.V274G; 4:121669684-121669684 |
skin | malignant_melanoma | Substitution - Missense |
c.163G>T; p.A55S; 4:121684703-121684703 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>G; p.V274G; 4:121669684-121669684 |
skin | malignant_melanoma | Substitution - Missense |
c.750C>T; p.Y250Y; 4:121669984-121669984 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.468C>T; p.L156L; 4:121678421-121678421 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.618G>A; p.L206L; 4:121672540-121672540 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.632A>G; p.D211G; 4:121671636-121671636 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.214G>A; p.E72K; 4:121683453-121683453 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.261C>A; p.P87P; 4:121683406-121683406 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.721+1G>T; p.?; 4:121671546-121671546 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.586A>C; p.T196P; 4:121672572-121672572 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.451C>T; p.R151W; 4:121678438-121678438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.602G>A; p.R201Q; 4:121672556-121672556 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.265C>T; p.R89W; 4:121683402-121683402 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.377A>G; p.K126R; 4:121681688-121681688 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.782G>T; p.G261V; 4:121669723-121669723 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.414A>G; p.E138E; 4:121678475-121678475 |
liver | carcinoma | Substitution - coding silent |
c.149G>A; p.R50H; 4:121684717-121684717 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.227A>T; p.K76I; 4:121683440-121683440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.781G>T; p.G261*; 4:121669724-121669724 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.751C>T; p.L251F; 4:121669983-121669983 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.89G>A; p.G30D; 4:121686293-121686293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.913T>A; p.S305T; 4:121668518-121668518 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.531+2T>C; p.?; 4:121677892-121677892 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.804C>G; p.T268T; 4:121669701-121669701 |
breast | carcinoma | Substitution - coding silent |
c.789G>A; p.G263G; 4:121669716-121669716 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.728C>G; p.S243C; 4:121670006-121670006 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.353C>T; p.T118I; 4:121681712-121681712 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.211T>C; p.S71P; 4:121683456-121683456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.904G>A; p.G302R; 4:121668527-121668527 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.601C>T; p.R201*; 4:121672557-121672557 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.73C>T; p.R25W; 4:121686309-121686309 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.148C>T; p.R50C; 4:121684718-121684718 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.908A>T; p.D303V; 4:121668523-121668523 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.587C>T; p.T196I; 4:121672571-121672571 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.19G>A; p.G7S; 4:121686363-121686363 |
NS | malignant_melanoma | Substitution - Missense |
c.317A>G; p.N106S; 4:121681748-121681748 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.585C>T; p.I195I; 4:121672573-121672573 |
skin | malignant_melanoma | Substitution - coding silent |
c.922T>C; p.Y308H; 4:121668509-121668509 |
liver | carcinoma | Substitution - Missense |
c.922T>C; p.Y308H; 4:121668509-121668509 |
liver | carcinoma | Substitution - Missense |
c.631G>C; p.D211H; 4:121671637-121671637 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.266G>A; p.R89Q; 4:121683401-121683401 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |