| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4864 |
Name | NPC1 |
Synonymous | NPC;Niemann-Pick disease, type C1;NPC1;Niemann-Pick disease, type C1 |
Definition | Niemann-Pick C1 protein |
Position | 18q11-q12 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NPC1 | ||
PCGP somatic mutation [Top] | ||
There is no record for NPC1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2710G>A; p.G904R; |
NS | malignant_melanoma |
c.2710G>A; p.G904R; |
NS | malignant_melanoma |
c.3776A>G; p.K1259R; |
salivary_gland | carcinoma; adenoid_cystic_carcinoma |
c.482G>T; p.R161L; |
lung | carcinoma; small_cell_carcinoma |
c.685G>A; p.E229K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.142C>T; p.P48S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2525T>C; p.F842S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.856G>A; p.A286T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.925A>G; p.I309V; |
liver | carcinoma |
c.3337A>C; p.T1113P; |
liver | carcinoma |
c.1027G>A; p.G343R; |
large_intestine; rectum | adenoma |
c.3216C>T; p.N1072N; |
NS | NS |
c.3216C>T; p.N1072N; |
NS | NS |
c.3216C>T; p.N1072N; |
NS | NS |
c.3216C>T; p.N1072N; |
NS | NS |
c.3216C>T; p.N1072N; |
NS | NS |
c.3321C>T; p.G1107G; |
oesophagus | carcinoma; adenocarcinoma |
c.1396G>A; p.D466N; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1605T>C; p.G535G; |
oesophagus | carcinoma; adenocarcinoma |
c.612C>T; p.T204T; |
stomach | carcinoma; adenocarcinoma |
c.3265G>A; p.E1089K; |
liver | carcinoma |
c.61T>C; p.F21L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3797G>A; p.R1266Q; |
liver | carcinoma |
c.1947+8G>C; p.?; |
large_intestine; colon | carcinoma |
c.3701T>C; p.L1234S; |
large_intestine; colon | carcinoma |
c.3175C>T; p.R1059*; |
large_intestine; colon | carcinoma |
c.2727C>T; p.C909C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.816G>A; p.M272I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.814A>T; p.M272L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.336A>T; p.T112T; |
lung | carcinoma; adenocarcinoma |
c.1261C>T; p.Q421*; |
lung | carcinoma; adenocarcinoma |
c.934_935insT; p.S312fs*3; |
pancreas | carcinoma; ductal_carcinoma |
c.287G>A; p.R96K; |
liver | carcinoma |
c.1358T>G; p.I453S; |
lung | carcinoma; small_cell_carcinoma |
c.1009C>T; p.R337W; |
autonomic_ganglia | neuroblastoma |
c.2993T>G; p.F998C; 18:19372552-19372552 |
ovary | carcinoma; serous_carcinoma |
c.2292G>T; p.A764A; 18:19375349-19375349 |
ovary | carcinoma; serous_carcinoma |
c.2427C>T; p.S809S; |
ovary | carcinoma; serous_carcinoma |
c.3591C>T; p.S1197S; |
ovary | carcinoma; serous_carcinoma |
c.1795C>G; p.L599V; |
lung | carcinoma; squamous_cell_carcinoma |
c.828C>T; p.Y276Y; |
lung | carcinoma; adenocarcinoma |
c.2692G>T; p.D898Y; |
lung | carcinoma; adenocarcinoma |
c.2229T>A; p.T743T; |
lung | carcinoma; squamous_cell_carcinoma |
c.3378C>G; p.I1126M; |
lung | carcinoma; squamous_cell_carcinoma |
c.1010_1011GG>TT; p.R337L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3730C>A; p.L1244I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3493G>A; p.V1165M; |
breast | carcinoma |
c.2409T>C; p.G803G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.864delT; p.F288fs*22; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.782C>T; p.T261M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3522G>A; p.A1174A; |
breast | carcinoma |
c.2918A>T; p.D973V; |
breast | carcinoma |
c.2780C>T; p.A927V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1820G>A; p.R607Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3535A>G; p.M1179V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3452C>T; p.A1151V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3621delT; p.F1207fs*35; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.482G>A; p.R161Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2820G>A; p.S940S; |
large_intestine; colon | NS |
c.1351G>A; p.E451K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2990G>A; p.R997K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3778A>C; p.S1260R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2355A>C; p.L785F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.984C>T; p.S328S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3307G>A; p.G1103S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.2395_2396insT; p.C799fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1351G>A; p.E451K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1773G>T; p.V591V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1756G>C; p.E586Q; |
breast | carcinoma |
c.1298C>A; p.P433H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.834G>A; p.A278A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2477C>A; p.S826Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.706G>T; p.A236S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2713C>T; p.Q905*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.414A>C; p.K138N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.358T>G; p.F120V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1350C>A; p.I450I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2292G>A; p.A764A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.258C>T; p.N86N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.865G>T; p.A289S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1955C>T; p.S652L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1948-2A>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1003T>A; p.L335M; |
breast | carcinoma |
c.1533G>A; p.T511T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3617A>C; p.K1206T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3208G>A; p.G1070S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1989C>A; p.I663I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2559G>C; p.L853L; |
urinary_tract; bladder | carcinoma |
c.2811C>T; p.F937F; |
breast | carcinoma |
c.3199G>A; p.E1067K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2380C>T; p.R794W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.515C>A; p.A172D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.514G>A; p.A172T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2432A>G; p.Q811R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2286_2287delCT; p.F763fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1521C>T; p.A507A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.901G>A; p.E301K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.208A>G; p.N70D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1863C>A; p.V621V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2730C>T; p.G910G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.761C>T; p.P254L; |
breast | carcinoma |
c.315G>A; p.L105L; |
urinary_tract; bladder | carcinoma |
c.1431G>A; p.T477T; |
cervix | carcinoma; squamous_cell_carcinoma |
c.2793C>T; p.N931N; |
breast | carcinoma |
c.1038C>T; p.C346C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2291C>T; p.A764V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2841C>T; p.F947F; |
urinary_tract; bladder | carcinoma |
c.2802A>G; p.R934R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.526C>A; p.L176M; |
skin | malignant_melanoma |
c.1210C>T; p.R404W; |
skin | malignant_melanoma |
c.2012C>T; p.S671F; |
skin | malignant_melanoma |
c.2579T>C; p.L860S; |
skin; neck | malignant_melanoma |
c.2017G>A; p.G673S; |
skin | malignant_melanoma |
c.3626G>A; p.G1209E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |