| Gene ID | 306 |
| Symbol | ANXA3 |
| Synonymous | ANX3 |
| Full name | annexin A3 |
| Gene description | 35-alpha calcimedin|Annexin III (lipocortin III)|PAP-III|annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha)|annexin-3|calcimedin 35-alpha|inositol 1,2-cyclic phosphate 2- |
| Cytoband | 4q21.21 |
| Gene type | protein-coding |
| Synonymous | MIM:106490; HGNC:HGNC:541; Ensembl:ENSG00000138772; HPRD:00111; Vega:OTTHUMG00000130198 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.386C>T; p.S129F; 4:78586333-78586333 |
skin | malignant_melanoma | Substitution - Missense |
c.793A>G; p.I265V; 4:78604280-78604280 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.923C>T; p.S308F; 4:78610066-78610066 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.300G>A; p.K100K; 4:78582278-78582278 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.327C>T; p.N109N; 4:78586274-78586274 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.59C>T; p.P20L; 4:78573223-78573223 |
NS | malignant_melanoma | Substitution - Missense |
c.457C>T; p.R153W; 4:78591597-78591597 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.635-1G>T; p.?; 4:78597318-78597318 |
lung | carcinoma; adenocarcinoma | Unknown |
c.904G>A; p.A302T; 4:78604391-78604391 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>T; p.H235Y; 4:78597387-78597387 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.243G>A; p.E81E; 4:78582221-78582221 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.92T>C; p.I31T; 4:78573256-78573256 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.851T>C; p.L284P; 4:78604338-78604338 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.514G>A; p.E172K; 4:78595411-78595411 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>A; p.E172K; 4:78595411-78595411 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.204G>T; p.L68L; 4:78582182-78582182 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.957T>C; p.C319C; 4:78610100-78610100 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.300G>T; p.K100N; 4:78582278-78582278 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.157C>T; p.R53W; 4:78579080-78579080 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.757delT; p.L254fs*1; 4:78601536-78601536 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.962G>A; p.G321E; 4:78610105-78610105 |
liver | carcinoma | Substitution - Missense |
c.757delT; p.L254fs*1; 4:78601536-78601536 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.962G>A; p.G321E; 4:78610105-78610105 |
liver | carcinoma | Substitution - Missense |
c.328G>A; p.E110K; 4:78586275-78586275 |
skin | malignant_melanoma | Substitution - Missense |
c.233G>T; p.G78V; 4:78582211-78582211 |
liver | carcinoma | Substitution - Missense |
c.233G>T; p.G78V; 4:78582211-78582211 |
liver | carcinoma | Substitution - Missense |
c.657C>T; p.I219I; 4:78597341-78597341 |
skin | malignant_melanoma | Substitution - coding silent |
c.897A>G; p.L299L; 4:78604384-78604384 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.799A>G; p.T267A; 4:78604286-78604286 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.522G>A; p.L174L; 4:78595419-78595419 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.458G>A; p.R153Q; 4:78591598-78591598 |
skin | malignant_melanoma | Substitution - Missense |
c.458G>A; p.R153Q; 4:78591598-78591598 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.714C>T; p.D238D; 4:78597398-78597398 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.268C>A; p.P90T; 4:78582246-78582246 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.789+1G>A; p.?; 4:78601569-78601569 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.786G>C; p.L262F; 4:78601565-78601565 |
breast | carcinoma | Substitution - Missense |
c.238T>A; p.F80I; 4:78582216-78582216 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.104G>C; p.G35A; 4:78579027-78579027 |
breast | carcinoma | Substitution - Missense |
c.666G>T; p.K222N; 4:78597350-78597350 |
liver | carcinoma | Substitution - Missense |
c.703C>A; p.H235N; 4:78597387-78597387 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.316G>A; p.A106T; 4:78586263-78586263 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.779G>A; p.R260Q; 4:78601558-78601558 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.779G>A; p.R260Q; 4:78601558-78601558 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.4G>A; p.A2T; 4:78554477-78554477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.801T>G; p.T267T; 4:78604288-78604288 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.963A>T; p.G321G; 4:78610106-78610106 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.505A>G; p.K169E; 4:78595402-78595402 |
breast | carcinoma | Substitution - Missense |
c.20G>C; p.G7A; 4:78573184-78573184 |
parathyroid | carcinoma | Substitution - Missense |
c.820C>T; p.R274*; 4:78604307-78604307 |
skin | malignant_melanoma | Substitution - Nonsense |
c.302A>C; p.K101T; 4:78582280-78582280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.446C>G; p.S149C; 4:78591586-78591586 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.718C>A; p.L240M; 4:78597402-78597402 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.944T>C; p.L315P; 4:78610087-78610087 |
prostate | carcinoma | Substitution - Missense |
c.119T>G; p.M40R; 4:78579042-78579042 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.603G>A; p.L201L; 4:78595856-78595856 |
thyroid | carcinoma | Substitution - coding silent |
c.862C>A; p.R288R; 4:78604349-78604349 |
thyroid | carcinoma | Substitution - coding silent |
c.225T>A; p.D75E; 4:78582203-78582203 |
large_intestine; colon | adenoma | Substitution - Missense |
c.255G>T; p.V85V; 4:78582233-78582233 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.862C>T; p.R288*; 4:78604349-78604349 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.620C>T; p.P207L; 4:78595873-78595873 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.416G>T; p.S139I; 4:78591556-78591556 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.763G>A; p.A255T; 4:78601542-78601542 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.536C>T; p.A179V; 4:78595433-78595433 |
liver | carcinoma | Substitution - Missense |
c.536C>T; p.A179V; 4:78595433-78595433 |
liver | carcinoma | Substitution - Missense |
c.221G>A; p.G74D; 4:78582199-78582199 |
skin | malignant_melanoma | Substitution - Missense |
c.498A>G; p.E166E; 4:78595395-78595395 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.158G>A; p.R53Q; 4:78579081-78579081 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.103+9T>C; p.?; 4:78573276-78573276 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.103+9T>C; p.?; 4:78573276-78573276 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.591C>A; p.F197L; 4:78595844-78595844 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.314G>C; p.G105A; 4:78586261-78586261 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.716T>C; p.L239S; 4:78597400-78597400 |
breast | carcinoma | Substitution - Missense |
c.791G>A; p.G264D; 4:78604278-78604278 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.319G>T; p.G107*; 4:78586266-78586266 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.753G>A; p.P251P; 4:78601532-78601532 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |