| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 26119 |
Name | LDLRAP1 |
Synonymous | low density lipoprotein receptor adaptor protein 1;LDLRAP1;low density lipoprotein receptor adaptor protein 1 |
Definition | LDL receptor adaptor protein|autosomal recessive hypercholesterolemia protein|low density lipoprotein receptor adapter protein 1 |
Position | 1p36.11 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.864G>A; p.S288S; 1:25566929-25566929 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.599_600insC; p.S202fs*19; 1:25563136-25563137 |
stomach | carcinoma; diffuse_adenocarcinoma | Insertion - Frameshift |
c.703G>A; p.E235K; 1:25563747-25563747 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.429C>T; p.C143C; 1:25557237-25557237 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.774G>A; p.A258A; 1:25565199-25565199 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.598_599insC; p.S202fs*19; 1:25563135-25563136 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.598_599insC; p.S202fs*19; 1:25563135-25563136 |
liver | carcinoma | Insertion - Frameshift |
c.598_599insC; p.S202fs*19; 1:25563135-25563136 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.598_599insC; p.S202fs*19; 1:25563135-25563136 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.598_599insC; p.S202fs*19; 1:25563135-25563136 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.598_599insC; p.S202fs*19; 1:25563135-25563136 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.200C>T; p.S67L; 1:25554033-25554033 |
breast | carcinoma | Substitution - Missense |
c.529G>A; p.E177K; 1:25562713-25562713 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.344+2T>C; p.?; 1:25554974-25554974 |
pancreas | carcinoma | Unknown |
c.208G>A; p.A70T; 1:25554041-25554041 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.208G>A; p.A70T; 1:25554041-25554041 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.712C>T; p.R238W; 1:25563756-25563756 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.712C>T; p.R238W; 1:25563756-25563756 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.537A>G; p.K179K; 1:25563074-25563074 |
liver | carcinoma | Substitution - coding silent |
c.537A>G; p.K179K; 1:25563074-25563074 |
liver | carcinoma | Substitution - coding silent |
c.675G>A; p.T225T; 1:25563719-25563719 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.750G>A; p.E250E; 1:25565175-25565175 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.664C>T; p.P222S; 1:25563708-25563708 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.709C>T; p.P237S; 1:25563753-25563753 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.775T>C; p.F259L; 1:25565200-25565200 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.779C>T; p.S260L; 1:25565204-25565204 |
skin | malignant_melanoma | Substitution - Missense |
c.779C>T; p.S260L; 1:25565204-25565204 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.722C>A; p.A241D; 1:25563766-25563766 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.303C>A; p.D101E; 1:25554931-25554931 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.359C>T; p.T120I; 1:25557167-25557167 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.674delC; p.T225fs*18; 1:25563718-25563718 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.376G>T; p.D126Y; 1:25557184-25557184 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.202G>T; p.A68S; 1:25554035-25554035 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.202G>T; p.A68S; 1:25554035-25554035 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.604T>C; p.S202P; 1:25563141-25563141 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.604T>C; p.S202P; 1:25563141-25563141 |
large_intestine | adenoma | Substitution - Missense |
c.894C>T; p.S298S; 1:25566959-25566959 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.894C>T; p.S298S; 1:25566959-25566959 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.599C>T; p.T200I; 1:25563136-25563136 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.93G>T; p.L31L; 1:25553926-25553926 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.813C>T; p.V271V; 1:25566878-25566878 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.573C>T; p.D191D; 1:25563110-25563110 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.513T>G; p.F171L; 1:25562697-25562697 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.856T>G; p.C286G; 1:25566921-25566921 |
ovary | carcinoma | Substitution - Missense |
c.70G>A; p.G24S; 1:25543768-25543768 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.769G>A; p.E257K; 1:25565194-25565194 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.518A>G; p.Q173R; 1:25562702-25562702 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.604delT; p.S202fs*2; 1:25563141-25563141 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.605C>T; p.S202F; 1:25563142-25563142 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.219G>A; p.R73R; 1:25554052-25554052 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.528_529GG>AA; p.E177K; 1:25562712-25562713 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.849C>T; p.Y283Y; 1:25566914-25566914 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.312C>T; p.T104T; 1:25554940-25554940 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.451C>G; p.R151G; 1:25557259-25557259 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.875G>T; p.W292L; 1:25566940-25566940 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.109G>T; p.D37Y; 1:25553942-25553942 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.618G>T; p.L206F; 1:25563662-25563662 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.618G>T; p.L206F; 1:25563662-25563662 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.451C>T; p.R151W; 1:25557259-25557259 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.376G>A; p.D126N; 1:25557184-25557184 |
skin | malignant_melanoma | Substitution - Missense |
c.654A>G; p.T218T; 1:25563698-25563698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.517C>T; p.Q173*; 1:25562701-25562701 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |