Entrez Gene

Basic Information
Gene ID	6272
Name	SORT1
Synonymous	sortilin 1;SORT1;sortilin 1
Definition	100 kDa NT receptor\|NTR3\|glycoprotein 95\|neurotensin receptor 3\|sortilin
Position	1p13.3\|1p21.3-p13.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.845G>A; p.G282E; 1:109345869-109345869	breast	carcinoma	Substitution - Missense
c.2351G>T; p.G784V; 1:109314678-109314678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2265T>G; p.N755K; 1:109314764-109314764	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1260C>T; p.S420S; 1:109340728-109340728	skin	malignant_melanoma	Substitution - coding silent
c.2001C>G; p.L667L; 1:109322955-109322955	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2249A>G; p.Q750R; 1:109316851-109316851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.316G>C; p.D106H; 1:109369580-109369580	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.932G>A; p.R311H; 1:109345782-109345782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>T; p.S469F; 1:109327567-109327567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2179delG; p.V727fs*1; 1:109316921-109316921	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2179delG; p.V727fs*1; 1:109316921-109316921	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2165A>G; p.K722R; 1:109316935-109316935	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1680C>T; p.Y560Y; 1:109325053-109325053	prostate	carcinoma	Substitution - coding silent
c.1021C>T; p.Q341*; 1:109342101-109342101	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.725C>T; p.S242F; 1:109350986-109350986	skin	malignant_melanoma	Substitution - Missense
c.1261G>A; p.E421K; 1:109340727-109340727	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1480G>T; p.V494L; 1:109327155-109327155	liver	carcinoma	Substitution - Missense
c.2491G>A; p.E831K; 1:109314048-109314048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>T; p.K152N; 1:109355454-109355454	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.436C>T; p.R146*; 1:109367412-109367412	skin	malignant_melanoma	Substitution - Nonsense
c.1314G>A; p.T438T; 1:109336297-109336297	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.741A>G; p.G247G; 1:109350970-109350970	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1770A>C; p.E590D; 1:109324963-109324963	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.576T>A; p.S192R; 1:109354499-109354499	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1055C>A; p.S352Y; 1:109342067-109342067	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2241G>A; p.P747P; 1:109316859-109316859	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2371C>T; p.R791*; 1:109314371-109314371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.663G>A; p.M221I; 1:109354412-109354412	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1083A>G; p.V361V; 1:109342039-109342039	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1404C>G; p.I468M; 1:109327569-109327569	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.262C>T; p.R88W; 1:109397631-109397631	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2285C>G; p.A762G; 1:109314744-109314744	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.412A>C; p.T138P; 1:109367436-109367436	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.966T>C; p.D322D; 1:109342156-109342156	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1174C>T; p.R392*; 1:109340814-109340814	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1507C>T; p.P503S; 1:109327128-109327128	skin	malignant_melanoma	Substitution - Missense
c.2102T>A; p.F701Y; 1:109317892-109317892	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.886T>C; p.F296L; 1:109345828-109345828	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.637C>T; p.P213S; 1:109354438-109354438	skin	malignant_melanoma	Substitution - Missense
c.637C>T; p.P213S; 1:109354438-109354438	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1609A>G; p.I537V; 1:109327026-109327026	breast	carcinoma	Substitution - Missense
c.1081G>T; p.V361L; 1:109342041-109342041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.594T>C; p.F198F; 1:109354481-109354481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.12C>G; p.P4P; 1:109397881-109397881	thyroid	other; neoplasm	Substitution - coding silent
c.2122G>C; p.E708Q; 1:109317872-109317872	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2312T>G; p.V771G; 1:109314717-109314717	skin	malignant_melanoma	Substitution - Missense
c.1228delC; p.L410fs*6; 1:109340760-109340760	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.1407C>T; p.S469S; 1:109327566-109327566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1445C>A; p.P482Q; 1:109327528-109327528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.399A>G; p.P133P; 1:109367449-109367449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2267C>A; p.S756Y; 1:109314762-109314762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1361_1362insA; p.N454fs*4; 1:109336249-109336250	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1361_1362insA; p.N454fs*4; 1:109336249-109336250	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2159G>A; p.G720E; 1:109316941-109316941	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.978G>A; p.R326R; 1:109342144-109342144	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.342G>T; p.L114F; 1:109369554-109369554	liver	carcinoma	Substitution - Missense
c.342G>T; p.L114F; 1:109369554-109369554	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1452C>T; p.A484A; 1:109327521-109327521	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1453G>A; p.V485I; 1:109327520-109327520	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1100A>G; p.E367G; 1:109342022-109342022	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.437G>A; p.R146Q; 1:109367411-109367411	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.419G>A; p.G140E; 1:109367429-109367429	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2277T>A; p.I759I; 1:109314752-109314752	kidney	other; neoplasm	Substitution - coding silent
c.914C>T; p.S305L; 1:109345800-109345800	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1464C>T; p.V488V; 1:109327509-109327509	skin	malignant_melanoma	Substitution - coding silent
c.1176A>G; p.R392R; 1:109340812-109340812	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1302A>G; p.G434G; 1:109336309-109336309	breast	carcinoma	Substitution - coding silent
c.1703A>G; p.Y568C; 1:109325030-109325030	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.926G>A; p.G309E; 1:109345788-109345788	skin	malignant_melanoma	Substitution - Missense
c.1947C>A; p.S649S; 1:109323009-109323009	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.380T>C; p.L127S; 1:109367468-109367468	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1309T>G; p.W437G; 1:109336302-109336302	breast	carcinoma	Substitution - Missense
c.1713C>T; p.G571G; 1:109325020-109325020	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2191C>T; p.R731*; 1:109316909-109316909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.576T>C; p.S192S; 1:109354499-109354499	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2191C>T; p.R731*; 1:109316909-109316909	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.706G>A; p.E236K; 1:109354369-109354369	breast	carcinoma	Substitution - Missense
c.2191C>T; p.R731*; 1:109316909-109316909	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1649C>A; p.S550Y; 1:109325084-109325084	skin	malignant_melanoma	Substitution - Missense
c.1759G>A; p.G587S; 1:109324974-109324974	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.886T>G; p.F296V; 1:109345828-109345828	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.634C>T; p.L212F; 1:109354441-109354441	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1365G>T; p.K455N; 1:109336246-109336246	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.714C>T; p.G238G; 1:109350997-109350997	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1397A>G; p.Y466C; 1:109327576-109327576	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.452G>T; p.G151V; 1:109355458-109355458	skin	malignant_melanoma	Substitution - Missense
c.58C>A; p.L20I; 1:109397835-109397835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.922C>T; p.L308F; 1:109345792-109345792	liver	carcinoma	Substitution - Missense
c.922C>T; p.L308F; 1:109345792-109345792	liver	carcinoma	Substitution - Missense
c.378C>A; p.V126V; 1:109367470-109367470	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.432A>T; p.L144L; 1:109367416-109367416	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1501A>T; p.M501L; 1:109327134-109327134	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1501A>T; p.M501L; 1:109327134-109327134	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1236C>T; p.G412G; 1:109340752-109340752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1161C>T; p.S387S; 1:109340827-109340827	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1087A>G; p.M363V; 1:109342035-109342035	liver	carcinoma	Substitution - Missense
c.403G>A; p.V135I; 1:109367445-109367445	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1245A>T; p.I415I; 1:109340743-109340743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1087A>G; p.M363V; 1:109342035-109342035	liver	carcinoma	Substitution - Missense
c.2155C>T; p.P719S; 1:109316945-109316945	skin	malignant_melanoma	Substitution - Missense
c.660G>C; p.M220I; 1:109354415-109354415	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2362C>A; p.L788M; 1:109314380-109314380	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.931C>T; p.R311C; 1:109345783-109345783	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1264+3G>A; p.?; 1:109340721-109340721	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1201G>C; p.E401Q; 1:109340787-109340787	NS	NS	Substitution - Missense
c.2160G>T; p.G720G; 1:109316940-109316940	skin	malignant_melanoma	Substitution - coding silent
c.2479G>A; p.E827K; 1:109314263-109314263	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1956G>C; p.Q652H; 1:109323000-109323000	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1418A>G; p.N473S; 1:109327555-109327555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1999C>T; p.L667F; 1:109322957-109322957	breast	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]