Entrez Gene

Basic Information
Gene ID	4157
Name	MC1R
Synonymous	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor);MC1R;melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Definition	MC1-R\|melanocyte-stimulating hormone receptor\|melanotropin receptor
Position	16q24.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.678G>A; p.K226K; 16:89919936-89919936	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.593C>T; p.A198V; 16:89919851-89919851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.699G>A; p.Q233Q; 16:89919957-89919957	liver	carcinoma	Substitution - coding silent
c.178G>T; p.V60L; 16:89919436-89919436	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.577G>T; p.V193L; 16:89919835-89919835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.168C>T; p.N56N; 16:89919426-89919426	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.534C>T; p.L178L; 16:89919792-89919792	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.788T>A; p.L263H; 16:89920046-89920046	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.900_901CC>TT; p.H301Y; 16:89920158-89920159	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.838T>C; p.F280L; 16:89920096-89920096	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.372C>A; p.T124T; 16:89919630-89919630	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.611C>T; p.A204V; 16:89919869-89919869	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.190G>A; p.A64T; 16:89919448-89919448	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.190G>T; p.A64S; 16:89919448-89919448	prostate	carcinoma	Substitution - Missense
c.756C>A; p.L252L; 16:89920014-89920014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.417C>T; p.A139A; 16:89919675-89919675	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.88C>T; p.Q30*; 16:89919346-89919346	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.477G>A; p.P159P; 16:89919735-89919735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.577G>A; p.V193M; 16:89919835-89919835	central_nervous_system; brain	glioma	Substitution - Missense
c.270C>A; p.S90R; 16:89919528-89919528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.100C>T; p.R34W; 16:89919358-89919358	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.906C>A; p.S302R; 16:89920164-89920164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.274G>A; p.V92M; 16:89919532-89919532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.274G>A; p.V92M; 16:89919532-89919532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.274G>A; p.V92M; 16:89919532-89919532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.499G>A; p.A167T; 16:89919757-89919757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.686G>A; p.R229H; 16:89919944-89919944	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.127G>A; p.G43R; 16:89919385-89919385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.686G>A; p.R229H; 16:89919944-89919944	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.145G>C; p.G49R; 16:89919403-89919403	skin	malignant_melanoma	Substitution - Missense
c.741G>T; p.L247L; 16:89919999-89919999	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.637C>T; p.R213W; 16:89919895-89919895	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.465C>G; p.I155M; 16:89919723-89919723	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.793G>A; p.V265I; 16:89920051-89920051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.685C>T; p.R229C; 16:89919943-89919943	prostate	carcinoma	Substitution - Missense
c.789C>A; p.L263L; 16:89920047-89920047	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.363C>T; p.D121D; 16:89919621-89919621	pancreas	carcinoma	Substitution - coding silent
c.561C>T; p.A187A; 16:89919819-89919819	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.561C>T; p.A187A; 16:89919819-89919819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.951G>T; p.W317C; 16:89920209-89920209	liver	carcinoma	Substitution - Missense
c.951G>T; p.W317C; 16:89920209-89920209	liver	carcinoma	Substitution - Missense
c.929A>G; p.K310R; 16:89920187-89920187	haematopoietic_and_lymphoid_tissue; tonsil	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.854C>G; p.A285G; 16:89920112-89920112	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.611C>G; p.A204G; 16:89919869-89919869	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.495_496insG; p.A166fs*73; 16:89919753-89919754	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.778C>T; p.H260Y; 16:89920036-89920036	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.456C>A; p.Y152*; 16:89919714-89919714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.942A>G; p.T314T; 16:89920200-89920200	thyroid	other; neoplasm	Substitution - coding silent
c.942A>G; p.T314T; 16:89920200-89920200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.942A>G; p.T314T; 16:89920200-89920200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.383T>C; p.M128T; 16:89919641-89919641	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.414C>T; p.I138I; 16:89919672-89919672	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.949T>C; p.W317R; 16:89920207-89920207	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.357C>T; p.V119V; 16:89919615-89919615	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.555C>A; p.H185Q; 16:89919813-89919813	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.155G>A; p.S52N; 16:89919413-89919413	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.613G>A; p.V205M; 16:89919871-89919871	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.861C>T; p.I287I; 16:89920119-89920119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.237C>T; p.C79C; 16:89919495-89919495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.237C>T; p.C79C; 16:89919495-89919495	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.916C>T; p.R306C; 16:89920174-89920174	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.853G>A; p.A285T; 16:89920111-89920111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.560C>A; p.A187D; 16:89919818-89919818	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.667C>T; p.R223W; 16:89919925-89919925	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.264C>T; p.S88S; 16:89919522-89919522	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.549C>T; p.Y183Y; 16:89919807-89919807	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.195G>T; p.K65N; 16:89919453-89919453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.195G>T; p.K65N; 16:89919453-89919453	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]