Entrez Gene

Basic Information
Gene ID	10747
Name	MASP2
Synonymous	mannan-binding lectin serine peptidase 2;MASP2;mannan-binding lectin serine peptidase 2
Definition	MBL-associated plasma protein of 19 kD\|MBL-associated serine protease 2\|mannan-binding lectin serine peptidase 1 pseudogene 1\|mannan-binding lectin serine protease 1 pseudogene 1\|mannan-binding lectin serine protease 2\|mannose-binding protein-associated s
Position	1p36.3-p36.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.136C>T; p.R46C; 1:11046989-11046989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.707A>G; p.H236R; 1:11043373-11043373	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.932T>A; p.V311D; 1:11037769-11037769	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1070C>A; p.P357Q; 1:11034845-11034845	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.96C>T; p.S32S; 1:11047029-11047029	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.358G>A; p.D120N; 1:11046610-11046610	pancreas	NS	Substitution - Missense
c.1356A>G; p.K452K; 1:11027590-11027590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1111G>T; p.D371Y; 1:11030859-11030859	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1687A>G; p.R563G; 1:11027259-11027259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2053G>A; p.D685N; 1:11026893-11026893	skin	malignant_melanoma	Substitution - Missense
c.966_989del24; p.S323_T330delSFSIFCET; 1:11037712-11037735	breast	carcinoma	Deletion - In frame
c.874C>T; p.H292Y; 1:11042890-11042890	skin	malignant_melanoma	Substitution - Missense
c.736C>A; p.L246I; 1:11043344-11043344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.167G>A; p.R56H; 1:11046958-11046958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.114G>C; p.E38D; 1:11047011-11047011	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1238A>T; p.E413V; 1:11030235-11030235	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1928A>T; p.E643V; 1:11027018-11027018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.675G>T; p.L225L; 1:11043405-11043405	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1584C>T; p.G528G; 1:11027362-11027362	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.808A>G; p.K270E; 1:11042956-11042956	skin	malignant_melanoma	Substitution - Missense
c.808A>G; p.K270E; 1:11042956-11042956	skin	malignant_melanoma	Substitution - Missense
c.1636A>T; p.S546C; 1:11027310-11027310	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.213C>A; p.L71L; 1:11046912-11046912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.785C>T; p.T262I; 1:11042979-11042979	bone; femur	chondrosarcoma	Substitution - Missense
c.1065C>T; p.D355D; 1:11034850-11034850	liver	carcinoma	Substitution - coding silent
c.166C>T; p.R56C; 1:11046959-11046959	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.866G>A; p.W289*; 1:11042898-11042898	skin	malignant_melanoma	Substitution - Nonsense
c.166C>T; p.R56C; 1:11046959-11046959	breast	carcinoma	Substitution - Missense
c.913G>C; p.A305P; 1:11037788-11037788	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1065C>T; p.D355D; 1:11034850-11034850	liver	carcinoma	Substitution - coding silent
c.1892delG; p.G631fs*10; 1:11027054-11027054	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.351C>T; p.F117F; 1:11046617-11046617	skin	malignant_melanoma	Substitution - coding silent
c.931G>A; p.V311I; 1:11037770-11037770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1828G>A; p.G610R; 1:11027118-11027118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.967_968insA; p.S323fs*11; 1:11037733-11037734	liver	carcinoma	Insertion - Frameshift
c.1703G>A; p.G568E; 1:11027243-11027243	skin	malignant_melanoma	Substitution - Missense
c.505G>A; p.A169T; 1:11045447-11045447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1636A>G; p.S546G; 1:11027310-11027310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1019C>A; p.P340H; 1:11034896-11034896	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2000G>C; p.G667A; 1:11026946-11026946	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1451C>T; p.A484V; 1:11027495-11027495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.434C>T; p.A145V; 1:11045518-11045518	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1126C>T; p.R376*; 1:11030844-11030844	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1229_1230delAT; p.Y410fs*3; 1:11030243-11030244	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1126C>T; p.R376*; 1:11030844-11030844	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1492C>T; p.R498*; 1:11027454-11027454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.935C>T; p.S312L; 1:11037766-11037766	skin	malignant_melanoma	Substitution - Missense
c.1600G>A; p.A534T; 1:11027346-11027346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.916C>T; p.P306S; 1:11037785-11037785	skin	malignant_melanoma	Substitution - Missense
c.1759T>A; p.Y587N; 1:11027187-11027187	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.13A>T; p.T5S; 1:11047112-11047112	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1637G>A; p.S546N; 1:11027309-11027309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.918A>C; p.P306P; 1:11037783-11037783	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1645A>T; p.T549S; 1:11027301-11027301	skin; foot	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.504C>T; p.R168R; 1:11045448-11045448	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.165C>T; p.Y55Y; 1:11046960-11046960	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.504C>T; p.R168R; 1:11045448-11045448	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.359A>G; p.D120G; 1:11046609-11046609	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.608G>A; p.R203Q; 1:11043472-11043472	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.216C>T; p.C72C; 1:11046909-11046909	breast	carcinoma	Substitution - coding silent
c.524G>A; p.R175H; 1:11045428-11045428	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.524G>A; p.R175H; 1:11045428-11045428	urinary_tract; bladder	carcinoma	Substitution - Missense
c.816_817insCAAC; p.T273fs*11; 1:11042947-11042948	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - Frameshift
c.1914G>C; p.V638V; 1:11027032-11027032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1339G>A; p.G447R; 1:11027607-11027607	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.938C>A; p.P313H; 1:11037763-11037763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.632G>A; p.C211Y; 1:11043448-11043448	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1257G>T; p.T419T; 1:11030216-11030216	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.632G>A; p.C211Y; 1:11043448-11043448	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1006C>T; p.Q336*; 1:11037695-11037695	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1924A>G; p.S642G; 1:11027022-11027022	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1664G>T; p.R555I; 1:11027282-11027282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.626C>T; p.S209F; 1:11043454-11043454	skin	malignant_melanoma	Substitution - Missense
c.533G>A; p.R178H; 1:11045419-11045419	skin; leg	malignant_melanoma; nodular	Substitution - Missense
c.705A>G; p.T235T; 1:11043375-11043375	liver	carcinoma	Substitution - coding silent
c.705A>G; p.T235T; 1:11043375-11043375	liver	carcinoma	Substitution - coding silent
c.228C>T; p.F76F; 1:11046897-11046897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.312C>A; p.D104E; 1:11046656-11046656	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1725A>G; p.L575L; 1:11027221-11027221	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1357C>T; p.P453S; 1:11027589-11027589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1127G>A; p.R376Q; 1:11030843-11030843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1209G>T; p.M403I; 1:11030761-11030761	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.791C>A; p.P264H; 1:11042973-11042973	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.661T>A; p.F221I; 1:11043419-11043419	liver	carcinoma	Substitution - Missense
c.661T>A; p.F221I; 1:11043419-11043419	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.797G>T; p.R266M; 1:11042967-11042967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.478C>T; p.L160L; 1:11045474-11045474	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.85C>T; p.R29C; 1:11047040-11047040	pancreas	carcinoma	Substitution - Missense
c.385G>A; p.G129R; 1:11046583-11046583	skin	malignant_melanoma	Substitution - Missense
c.555C>T; p.S185S; 1:11043525-11043525	thyroid	other; neoplasm	Substitution - coding silent
c.2037C>T; p.I679I; 1:11026909-11026909	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.99C>T; p.P33P; 1:11047026-11047026	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.51C>T; p.P17P; 1:11047074-11047074	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.107C>T; p.P36L; 1:11047018-11047018	skin; neck	malignant_melanoma	Substitution - Missense
c.99C>T; p.P33P; 1:11047026-11047026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.424T>C; p.C142R; 1:11045528-11045528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.56G>A; p.G19D; 1:11047069-11047069	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.247G>A; p.A83T; 1:11046721-11046721	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.513C>T; p.Y171Y; 1:11045439-11045439	oesophagus	carcinoma	Substitution - coding silent
c.430G>T; p.V144L; 1:11045522-11045522	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.369C>T; p.N123N; 1:11046599-11046599	bone; femur	other; chondroblastoma	Substitution - coding silent
c.1900G>A; p.G634R; 1:11027046-11027046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811A>G; p.S271G; 1:11042953-11042953	skin	malignant_melanoma	Substitution - Missense
c.811A>G; p.S271G; 1:11042953-11042953	skin	malignant_melanoma	Substitution - Missense
c.1907C>T; p.A636V; 1:11027039-11027039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.930C>A; p.H310Q; 1:11037771-11037771	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.192C>T; p.F64F; 1:11046933-11046933	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1684_1685delAT; p.M562fs*4; 1:11027261-11027262	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.501C>T; p.C167C; 1:11045451-11045451	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.870G>C; p.K290N; 1:11042894-11042894	oesophagus	carcinoma	Substitution - Missense
c.947C>A; p.A316D; 1:11037754-11037754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.774C>A; p.F258L; 1:11042990-11042990	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.741G>A; p.K247K; 1:11043339-11043339	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1065C>A; p.D355E; 1:11034850-11034850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.352C>T; p.R118C; 1:11046616-11046616	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.107C>A; p.P36Q; 1:11047018-11047018	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1304G>C; p.G435A; 1:11027642-11027642	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.514G>A; p.V172I; 1:11045438-11045438	skin	malignant_melanoma	Substitution - Missense
c.302C>T; p.P101L; 1:11046666-11046666	skin	malignant_melanoma	Substitution - Missense
c.890-2A>G; p.?; 1:11037813-11037813	stomach	carcinoma; adenocarcinoma	Unknown
c.1853G>C; p.C618S; 1:11027093-11027093	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1561G>A; p.E521K; 1:11027385-11027385	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1608_1609insA; p.L538fs*3; 1:11027337-11027338	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.375G>A; p.K125K; 1:11046593-11046593	pancreas	carcinoma	Substitution - coding silent
c.1414C>T; p.L472F; 1:11027532-11027532	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1670A>T; p.E557V; 1:11027276-11027276	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1414C>T; p.L472F; 1:11027532-11027532	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1900_1901GG>AA; p.G634K; 1:11027045-11027046	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1483C>G; p.L495V; 1:11027463-11027463	pleura	pulmonary_blastoma	Substitution - Missense
c.976A>G; p.I326V; 1:11037725-11037725	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1066C>T; p.R356W; 1:11034849-11034849	skin	malignant_melanoma	Substitution - Missense
c.1864G>T; p.E622*; 1:11027082-11027082	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1228T>A; p.Y410N; 1:11030245-11030245	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.963A>G; p.K321K; 1:11037738-11037738	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.717C>G; p.T239T; 1:11043363-11043363	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.923A>C; p.N308T; 1:11037778-11037778	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1764C>T; p.V588V; 1:11027182-11027182	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1360G>T; p.G454C; 1:11027586-11027586	pancreas	carcinoma	Substitution - Missense
c.946G>A; p.A316T; 1:11037755-11037755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1078G>A; p.A360T; 1:11034837-11034837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.889+1G>A; p.?; 1:11042874-11042874	urinary_tract; bladder	carcinoma	Unknown
c.729C>T; p.Y243Y; 1:11043351-11043351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1748G>A; p.R583K; 1:11027198-11027198	skin	malignant_melanoma	Substitution - Missense
c.1315C>A; p.R439S; 1:11027631-11027631	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.561G>A; p.Q187Q; 1:11043519-11043519	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.921T>C; p.P307P; 1:11037780-11037780	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.930C>G; p.H310Q; 1:11037771-11037771	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.873C>T; p.I291I; 1:11042891-11042891	skin	malignant_melanoma	Substitution - coding silent
c.356C>T; p.S119F; 1:11046612-11046612	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.578C>A; p.S193Y; 1:11043502-11043502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148C>T; p.P383L; 1:11030822-11030822	skin	malignant_melanoma	Substitution - Missense
c.1008A>G; p.Q336Q; 1:11037693-11037693	liver	carcinoma	Substitution - coding silent
c.1008A>G; p.Q336Q; 1:11037693-11037693	liver	carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]