Entrez Gene

Basic Information
Gene ID	57190
Name	SEPN1
Synonymous	selenoprotein N, 1;SEPN1;selenoprotein N, 1
Definition	selenoprotein N
Position	1p36.13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1629C>G; p.F543L; 1:25815574-25815574	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1076T>C; p.I359T; 1:25811519-25811519	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.426C>T; p.C142C; 1:25805164-25805164	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.426C>T; p.C142C; 1:25805164-25805164	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.886T>C; p.F296L; 1:25809696-25809696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.191C>A; p.A64E; 1:25801050-25801050	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.191C>A; p.A64E; 1:25801050-25801050	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.935A>G; p.Q312R; 1:25809745-25809745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>T; p.G187C; 1:25808601-25808601	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.754A>G; p.I252V; 1:25809032-25809032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.629T>C; p.L210P; 1:25808671-25808671	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1045G>T; p.A349S; 1:25811488-25811488	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1402C>T; p.L468F; 1:25813895-25813895	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1748G>A; p.R583H; 1:25815693-25815693	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1564_1565CC>TT; p.P522F; 1:25814140-25814141	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1470G>T; p.W490C; 1:25813963-25813963	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1684T>G; p.S562A; 1:25815629-25815629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1470G>T; p.W490C; 1:25813963-25813963	liver	carcinoma	Substitution - Missense
c.729G>A; p.P243P; 1:25808771-25808771	ovary	other; neoplasm	Substitution - coding silent
c.549C>T; p.L183L; 1:25808591-25808591	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.549C>T; p.L183L; 1:25808591-25808591	skin	malignant_melanoma	Substitution - coding silent
c.803G>T; p.R268L; 1:25809081-25809081	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1114C>T; p.P372S; 1:25811712-25811712	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1772A>G; p.*591W; 1:25815717-25815717	lung	carcinoma; squamous_cell_carcinoma	Nonstop extension
c.1427C>T; p.S476L; 1:25813920-25813920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1077C>T; p.I359I; 1:25811520-25811520	skin	malignant_melanoma	Substitution - coding silent
c.1427C>T; p.S476L; 1:25813920-25813920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.779A>G; p.H260R; 1:25809057-25809057	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.881C>T; p.A294V; 1:25809691-25809691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.940A>G; p.T314A; 1:25809750-25809750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1473C>T; p.S491S; 1:25813966-25813966	skin	malignant_melanoma	Substitution - coding silent
c.1662C>T; p.I554I; 1:25815607-25815607	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.184G>T; p.E62*; 1:25801043-25801043	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.907G>A; p.D303N; 1:25809717-25809717	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.186A>G; p.E62E; 1:25801045-25801045	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.611G>A; p.R204H; 1:25808653-25808653	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1461C>T; p.I487I; 1:25813954-25813954	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.482G>A; p.R161Q; 1:25805220-25805220	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.482G>A; p.R161Q; 1:25805220-25805220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.482G>A; p.R161Q; 1:25805220-25805220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1506C>A; p.N502K; 1:25814082-25814082	thyroid	other; neoplasm	Substitution - Missense
c.1337T>C; p.L446P; 1:25812742-25812742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1158C>T; p.I386I; 1:25811756-25811756	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.835A>G; p.T279A; 1:25809113-25809113	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1158C>T; p.I386I; 1:25811756-25811756	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.607_608insC; p.R204fs*16; 1:25808649-25808650	skin	malignant_melanoma	Insertion - Frameshift
c.1124C>T; p.P375L; 1:25811722-25811722	skin	malignant_melanoma	Substitution - Missense
c.1769C>T; p.P590L; 1:25815714-25815714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1769C>T; p.P590L; 1:25815714-25815714	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.984C>T; p.D328D; 1:25809794-25809794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.415G>A; p.A139T; 1:25805153-25805153	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1379C>T; p.S460F; 1:25812784-25812784	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1256A>G; p.E419G; 1:25811854-25811854	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1078G>A; p.G360S; 1:25811521-25811521	prostate	carcinoma	Substitution - Missense
c.1030G>A; p.E344K; 1:25811473-25811473	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1609C>A; p.H537N; 1:25815554-25815554	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1387+1G>A; p.?; 1:25812793-25812793	pancreas	carcinoma	Unknown
c.1387+1G>A; p.?; 1:25812793-25812793	pancreas	carcinoid-endocrine_tumour	Unknown
c.761G>A; p.R254Q; 1:25809039-25809039	central_nervous_system; brain	glioma	Substitution - Missense
c.1311C>T; p.F437F; 1:25812716-25812716	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1259T>G; p.V420G; 1:25811857-25811857	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.493C>T; p.L165L; 1:25805231-25805231	skin	malignant_melanoma	Substitution - coding silent
c.496C>T; p.L166F; 1:25805234-25805234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.202C>G; p.L68V; 1:25801061-25801061	liver	carcinoma	Substitution - Missense
c.202C>G; p.L68V; 1:25801061-25801061	liver	carcinoma	Substitution - Missense
c.733C>T; p.P245S; 1:25808775-25808775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.966C>T; p.D322D; 1:25809776-25809776	prostate	carcinoma	Substitution - coding silent
c.1085T>C; p.I362T; 1:25811528-25811528	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.425G>A; p.C142Y; 1:25805163-25805163	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1173T>C; p.P391P; 1:25811771-25811771	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.713A>G; p.N238S; 1:25808755-25808755	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1711G>A; p.A571T; 1:25815656-25815656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.872+1G>T; p.?; 1:25809151-25809151	lung	carcinoma; adenocarcinoma	Unknown
c.531C>T; p.F177F; 1:25805269-25805269	skin	malignant_melanoma	Substitution - coding silent
c.770G>A; p.S257N; 1:25809048-25809048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1654G>T; p.E552*; 1:25815599-25815599	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.801C>G; p.T267T; 1:25809079-25809079	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1388-1G>T; p.?; 1:25813880-25813880	lung	carcinoma; adenocarcinoma	Unknown
c.883G>A; p.E295K; 1:25809693-25809693	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1758C>T; p.P586P; 1:25815703-25815703	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1388G>T; p.G463V; 1:25813881-25813881	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1316G>A; p.R439Q; 1:25812721-25812721	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1638C>T; p.I546I; 1:25815583-25815583	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1272C>A; p.P424P; 1:25811870-25811870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.839C>A; p.A280D; 1:25809117-25809117	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1159G>A; p.D387N; 1:25811757-25811757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.716G>A; p.R239H; 1:25808758-25808758	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.416C>T; p.A139V; 1:25805154-25805154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1654G>A; p.E552K; 1:25815599-25815599	thyroid	other; neoplasm	Substitution - Missense
c.1636A>G; p.I546V; 1:25815581-25815581	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1566C>T; p.P522P; 1:25814142-25814142	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.630T>A; p.L210L; 1:25808672-25808672	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1430C>A; p.P477H; 1:25813923-25813923	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense

COSMIC somatic mutation [Top]