Entrez Gene

Basic Information
Gene ID	6490
Name	PMEL
Synonymous	premelanosome protein;PMEL;premelanosome protein
Definition	melanocyte protein PMEL\|melanocyte protein Pmel 17\|melanocyte protein mel 17\|melanocytes lineage-specific antigen GP100\|melanoma-associated ME20 antigen\|melanosomal matrix protein17\|silver locus protein homolog\|silver, mouse, homolog of
Position	12q13-q14
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1364G>A; p.G455D; 12:55956210-55956210	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1364G>A; p.G455D; 12:55956210-55956210	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.660C>T; p.S220S; 12:55957643-55957643	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1012G>A; p.G338S; 12:55957291-55957291	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1358C>A; p.S453Y; 12:55956216-55956216	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1797C>T; p.I599I; 12:55955327-55955327	breast	carcinoma	Substitution - coding silent
c.604C>G; p.H202D; 12:55957950-55957950	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1198A>G; p.M400V; 12:55957105-55957105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.77-2A>G; p.?; 12:55961734-55961734	liver	carcinoma	Unknown
c.1911G>T; p.W637C; 12:55954289-55954289	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.24C>G; p.C8W; 12:55965988-55965988	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1093C>T; p.Q365*; 12:55957210-55957210	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.871G>A; p.V291I; 12:55957432-55957432	skin	malignant_melanoma	Substitution - Missense
c.1083T>C; p.T361T; 12:55957220-55957220	breast	carcinoma	Substitution - coding silent
c.16A>T; p.K6*; 12:55965996-55965996	skin	malignant_melanoma	Substitution - Nonsense
c.1853G>A; p.R618H; 12:55954347-55954347	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.752T>A; p.L251Q; 12:55957551-55957551	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.699G>A; p.L233L; 12:55957604-55957604	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.404G>A; p.G135D; 12:55958538-55958538	skin	malignant_melanoma	Substitution - Missense
c.50C>A; p.A17D; 12:55965962-55965962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1777C>A; p.L593I; 12:55955347-55955347	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1777C>A; p.L593I; 12:55955347-55955347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1157G>A; p.G386D; 12:55957146-55957146	ovary	other; neoplasm	Substitution - Missense
c.1244C>T; p.A415V; 12:55957059-55957059	skin	malignant_melanoma	Substitution - Missense
c.1958G>A; p.S653N; 12:55954242-55954242	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1512C>T; p.S504S; 12:55955823-55955823	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1159A>G; p.T387A; 12:55957144-55957144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>G; p.A80G; 12:55961412-55961412	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.243T>C; p.N81N; 12:55961408-55961408	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.770C>T; p.S257F; 12:55957533-55957533	liver	carcinoma	Substitution - Missense
c.770C>T; p.S257F; 12:55957533-55957533	liver	carcinoma	Substitution - Missense
c.1059G>T; p.V353V; 12:55957244-55957244	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.10G>T; p.V4L; 12:55966002-55966002	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.156G>T; p.W52C; 12:55961653-55961653	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.406G>A; p.G136R; 12:55958536-55958536	skin	malignant_melanoma	Substitution - Missense
c.101G>T; p.G34V; 12:55961708-55961708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.884C>G; p.A295G; 12:55957419-55957419	breast	carcinoma	Substitution - Missense
c.701G>T; p.R234I; 12:55957602-55957602	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.701G>T; p.R234I; 12:55957602-55957602	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.701G>T; p.R234I; 12:55957602-55957602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1765C>G; p.Q589E; 12:55955359-55955359	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.229C>G; p.L77V; 12:55961422-55961422	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1821G>A; p.M607I; 12:55955303-55955303	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1925G>A; p.R642H; 12:55954275-55954275	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1925G>A; p.R642H; 12:55954275-55954275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1925G>A; p.R642H; 12:55954275-55954275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1925G>A; p.R642H; 12:55954275-55954275	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1925G>A; p.R642H; 12:55954275-55954275	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1751T>C; p.L584P; 12:55955475-55955475	ovary	carcinoma	Substitution - Missense
c.1751T>C; p.L584P; 12:55955475-55955475	ovary	carcinoma	Substitution - Missense
c.1586C>G; p.S529*; 12:55955640-55955640	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.101G>C; p.G34A; 12:55961708-55961708	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1450T>C; p.S484P; 12:55956124-55956124	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.303G>T; p.Q101H; 12:55961348-55961348	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.712C>T; p.L238L; 12:55957591-55957591	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1672C>T; p.L558L; 12:55955554-55955554	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.624C>T; p.T208T; 12:55957930-55957930	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.137G>A; p.R46K; 12:55961672-55961672	skin; trunk	malignant_melanoma	Substitution - Missense
c.1019C>T; p.A340V; 12:55957284-55957284	central_nervous_system; brain	glioma	Substitution - Missense
c.1879G>A; p.V627I; 12:55954321-55954321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1201A>G; p.T401A; 12:55957102-55957102	prostate	carcinoma	Substitution - Missense
c.159A>G; p.T53T; 12:55961650-55961650	breast	carcinoma	Substitution - coding silent
c.229C>T; p.L77L; 12:55961422-55961422	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.571C>T; p.R191C; 12:55957983-55957983	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1831C>T; p.L611F; 12:55955293-55955293	skin	malignant_melanoma	Substitution - Missense
c.858C>T; p.V286V; 12:55957445-55957445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1404G>A; p.K468K; 12:55956170-55956170	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.493G>A; p.G165S; 12:55958061-55958061	breast	carcinoma	Substitution - Missense
c.323C>A; p.T108N; 12:55961328-55961328	urinary_tract; bladder	carcinoma	Substitution - Missense
c.444C>A; p.S148R; 12:55958498-55958498	breast	carcinoma	Substitution - Missense
c.1429C>T; p.L477L; 12:55956145-55956145	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1511C>T; p.S504F; 12:55955824-55955824	skin	malignant_melanoma	Substitution - Missense
c.22T>C; p.C8R; 12:55965990-55965990	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1181C>T; p.T394I; 12:55957122-55957122	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1769A>C; p.E590A; 12:55955355-55955355	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.119G>A; p.R40K; 12:55961690-55961690	skin	malignant_melanoma	Substitution - Missense
c.119G>A; p.R40K; 12:55961690-55961690	skin	malignant_melanoma	Substitution - Missense
c.762T>C; p.A254A; 12:55957541-55957541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1881A>G; p.V627V; 12:55954319-55954319	central_nervous_system; brain	glioma	Substitution - coding silent
c.238G>A; p.A80T; 12:55961413-55961413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1240A>G; p.T414A; 12:55957063-55957063	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1956C>T; p.N652N; 12:55954244-55954244	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.204C>T; p.L68L; 12:55961447-55961447	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.548_549insAC; p.M184fs*4; 12:55958005-55958006	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1516G>A; p.E506K; 12:55955819-55955819	urinary_tract; bladder	carcinoma	Substitution - Missense
c.717C>A; p.T239T; 12:55957586-55957586	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1155G>A; p.M385I; 12:55957148-55957148	skin	malignant_melanoma	Substitution - Missense
c.1535T>C; p.L512P; 12:55955800-55955800	skin	malignant_melanoma	Substitution - Missense
c.108A>C; p.S36S; 12:55961701-55961701	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1732G>A; p.A578T; 12:55955494-55955494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1798G>A; p.V600M; 12:55955326-55955326	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1523A>G; p.D508G; 12:55955812-55955812	liver	carcinoma	Substitution - Missense
c.435G>T; p.Q145H; 12:55958507-55958507	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1472-1G>A; p.?; 12:55955864-55955864	breast	carcinoma	Unknown
c.279C>A; p.S93R; 12:55961372-55961372	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1828delG; p.V610fs*5; 12:55955296-55955296	breast	carcinoma	Deletion - Frameshift
c.332A>G; p.N111S; 12:55961319-55961319	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1559T>G; p.L520R; 12:55955667-55955667	urinary_tract; bladder	carcinoma	Substitution - Missense
c.535C>T; p.L179L; 12:55958019-55958019	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1722C>G; p.T574T; 12:55955504-55955504	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1152C>T; p.V384V; 12:55957151-55957151	skin	malignant_melanoma	Substitution - coding silent
c.750delT; p.L251fs*19; 12:55957553-55957553	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1730T>G; p.L577R; 12:55955496-55955496	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.817G>T; p.A273S; 12:55957486-55957486	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1341G>A; p.T447T; 12:55956962-55956962	central_nervous_system; brain	glioma	Substitution - coding silent
c.790G>A; p.D264N; 12:55957513-55957513	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1692A>T; p.T564T; 12:55955534-55955534	breast	carcinoma	Substitution - coding silent
c.1536G>A; p.L512L; 12:55955799-55955799	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1536G>A; p.L512L; 12:55955799-55955799	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1682G>A; p.G561D; 12:55955544-55955544	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.783C>T; p.D261D; 12:55957520-55957520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1934G>A; p.C645Y; 12:55954266-55954266	oesophagus	carcinoma	Substitution - Missense
c.881C>T; p.A294V; 12:55957422-55957422	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.814C>T; p.R272W; 12:55957489-55957489	breast	carcinoma	Substitution - Missense
c.472C>G; p.Q158E; 12:55958082-55958082	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.472C>G; p.Q158E; 12:55958082-55958082	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.472C>G; p.Q158E; 12:55958082-55958082	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.472C>G; p.Q158E; 12:55958082-55958082	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1364G>T; p.G455V; 12:55956210-55956210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1915C>T; p.R639C; 12:55954285-55954285	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.S140F; 12:55958523-55958523	NS	NS	Substitution - Missense
c.1300C>T; p.P434S; 12:55957003-55957003	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.231G>A; p.L77L; 12:55961420-55961420	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.920C>T; p.P307L; 12:55957383-55957383	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.1436G>A; p.R479Q; 12:55956138-55956138	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.818C>A; p.A273E; 12:55957485-55957485	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.575G>T; p.R192L; 12:55957979-55957979	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]