| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 51290 |
Name | ERGIC2 |
Synonymous | ERGIC and golgi 2;ERGIC2;ERGIC and golgi 2 |
Definition | CD14 protein|endoplasmic reticulum-Golgi intermediate compartment protein 2 |
Position | 12p11.22 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1134A>G; p.*378*; 12:29341156-29341156 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.224G>T; p.R75I; 12:29368279-29368279 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.820G>A; p.E274K; 12:29345448-29345448 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1111C>T; p.L371F; 12:29341179-29341179 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.337G>A; p.V113I; 12:29361682-29361682 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.92_93CC>TT; p.A31V; 12:29371541-29371542 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.399G>A; p.R133R; 12:29357700-29357700 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.19A>G; p.K7E; 12:29371615-29371615 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.19A>G; p.K7E; 12:29371615-29371615 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1074T>C; p.V358V; 12:29341216-29341216 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.579T>A; p.I193I; 12:29350062-29350062 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.762G>T; p.V254V; 12:29345506-29345506 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.308C>T; p.S103F; 12:29366902-29366902 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.59C>G; p.P20R; 12:29371575-29371575 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.660G>T; p.L220F; 12:29349146-29349146 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.668G>T; p.G223V; 12:29349138-29349138 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.1100A>G; p.N367S; 12:29341190-29341190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.546A>G; p.A182A; 12:29356408-29356408 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.931T>G; p.F311V; 12:29343177-29343177 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.467T>G; p.L156R; 12:29357632-29357632 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.70G>C; p.E24Q; 12:29371564-29371564 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.30A>T; p.L10F; 12:29371604-29371604 |
kidney | other; neoplasm | Substitution - Missense |
c.805C>T; p.Q269*; 12:29345463-29345463 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.546A>T; p.A182A; 12:29356408-29356408 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.546A>T; p.A182A; 12:29356408-29356408 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.36G>A; p.L12L; 12:29371598-29371598 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.397A>C; p.R133R; 12:29357702-29357702 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.51T>C; p.D17D; 12:29371583-29371583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.100G>T; p.G34C; 12:29371534-29371534 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.988+1G>T; p.?; 12:29343119-29343119 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Unknown |
c.1013T>G; p.F338C; 12:29341792-29341792 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.590G>A; p.R197H; 12:29350051-29350051 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.887A>T; p.D296V; 12:29343221-29343221 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.989-1G>T; p.?; 12:29341817-29341817 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.517C>A; p.H173N; 12:29356437-29356437 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.578T>A; p.I193N; 12:29350063-29350063 |
ovary | other; neoplasm | Substitution - Missense |
c.746A>G; p.Y249C; 12:29345522-29345522 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.666T>C; p.F222F; 12:29349140-29349140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7C>T; p.R3*; 12:29371627-29371627 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.7C>T; p.R3*; 12:29371627-29371627 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.913A>G; p.T305A; 12:29343195-29343195 |
prostate | carcinoma | Substitution - Missense |
c.397A>G; p.R133G; 12:29357702-29357702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.482A>G; p.D161G; 12:29356472-29356472 |
thyroid | carcinoma | Substitution - Missense |
c.1037G>T; p.R346L; 12:29341768-29341768 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.60G>A; p.P20P; 12:29371574-29371574 |
prostate | carcinoma | Substitution - coding silent |
c.213T>G; p.S71S; 12:29370116-29370116 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.575C>T; p.A192V; 12:29350066-29350066 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.364G>C; p.E122Q; 12:29361655-29361655 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.391C>T; p.Q131*; 12:29357708-29357708 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.482A>C; p.D161A; 12:29356472-29356472 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.243T>C; p.T81T; 12:29368260-29368260 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1113T>G; p.L371L; 12:29341177-29341177 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |