Entrez Gene

Basic Information
Gene ID	3070
Name	HELLS
Synonymous	helicase, lymphoid-specific;HELLS;helicase, lymphoid-specific
Definition	SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6\|SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6\|lymphoid-specific helicase\|proliferation-associated SNF2-like
Position	10q24.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1138C>A; p.L380I; 10:94581431-94581431	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1194C>G; p.N398K; 10:94581487-94581487	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2155G>A; p.V719I; 10:94594761-94594761	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1702C>T; p.R568C; 10:94590711-94590711	skin	malignant_melanoma	Substitution - Missense
c.1706A>C; p.K569T; 10:94590715-94590715	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2162G>A; p.R721H; 10:94594768-94594768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2250T>C; p.N750N; 10:94596861-94596861	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.671G>A; p.R224Q; 10:94574153-94574153	breast	carcinoma	Substitution - Missense
c.1186T>C; p.L396L; 10:94581479-94581479	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1186T>C; p.L396L; 10:94581479-94581479	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1186T>C; p.L396L; 10:94581479-94581479	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.601C>T; p.P201S; 10:94574083-94574083	skin	malignant_melanoma	Substitution - Missense
c.955C>T; p.R319W; 10:94576728-94576728	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.193T>C; p.Y65H; 10:94554165-94554165	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1852-2A>T; p.?; 10:94592393-94592393	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1188G>A; p.L396L; 10:94581481-94581481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1781T>C; p.L594S; 10:94592242-94592242	NS	malignant_melanoma	Substitution - Missense
c.1781T>C; p.L594S; 10:94592242-94592242	NS	malignant_melanoma	Substitution - Missense
c.1928G>A; p.S643N; 10:94592471-94592471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1971+1_1971+2insT; p.?; 10:94592515-94592516	meninges	meningioma	Unknown
c.2454G>T; p.E818D; 10:94601559-94601559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.190C>T; p.R64W; 10:94554162-94554162	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.628G>A; p.V210I; 10:94574110-94574110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.190C>T; p.R64W; 10:94554162-94554162	prostate	carcinoma	Substitution - Missense
c.2408G>A; p.R803Q; 10:94597097-94597097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1532G>A; p.R511Q; 10:94590456-94590456	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2482A>C; p.N828H; 10:94601587-94601587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2370G>A; p.K790K; 10:94597059-94597059	kidney	other; neoplasm	Substitution - coding silent
c.2266C>T; p.Q756*; 10:94596877-94596877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2185G>A; p.D729N; 10:94594791-94594791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1444G>A; p.A482T; 10:94588346-94588346	skin	malignant_melanoma	Substitution - Missense
c.236C>T; p.S79F; 10:94554208-94554208	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1104G>A; p.R368R; 10:94581397-94581397	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.158G>A; p.R53H; 10:94554130-94554130	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.180G>A; p.S60S; 10:94554152-94554152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.340A>C; p.N114H; 10:94562697-94562697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.988A>G; p.I330V; 10:94576761-94576761	oesophagus	carcinoma	Substitution - Missense
c.611A>G; p.K204R; 10:94574093-94574093	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2234T>C; p.L745S; 10:94594840-94594840	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.502C>T; p.L168F; 10:94573984-94573984	skin	malignant_melanoma	Substitution - Missense
c.157C>T; p.R53C; 10:94554129-94554129	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1521A>G; p.R507R; 10:94590445-94590445	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1234G>C; p.E412Q; 10:94582967-94582967	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2516A>T; p.*839L; 10:94601621-94601621	lung; right_upper_lobe	carcinoma; adenocarcinoma	Nonstop extension
c.1450G>C; p.V484L; 10:94588352-94588352	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.792G>T; p.L264F; 10:94574640-94574640	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1833delA; p.R614fs*11; 10:94592294-94592294	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1833delA; p.R614fs*11; 10:94592294-94592294	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1833delA; p.R614fs*11; 10:94592294-94592294	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1952A>G; p.Y651C; 10:94592495-94592495	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1264G>C; p.E422Q; 10:94582997-94582997	urinary_tract; bladder	carcinoma	Substitution - Missense
c.190C>G; p.R64G; 10:94554162-94554162	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1136T>G; p.L379R; 10:94581429-94581429	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1276G>T; p.D426Y; 10:94583009-94583009	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1549A>C; p.N517H; 10:94590473-94590473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.151A>C; p.K51Q; 10:94546496-94546496	breast	carcinoma	Substitution - Missense
c.2120G>A; p.R707K; 10:94594726-94594726	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2100G>A; p.S700S; 10:94594706-94594706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.280C>A; p.Q94K; 10:94558142-94558142	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2163C>T; p.R721R; 10:94594769-94594769	skin	malignant_melanoma	Substitution - coding silent
c.1033-10C>T; p.?; 10:94581316-94581316	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.252G>A; p.T84T; 10:94554224-94554224	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.454delA; p.N154fs*29; 10:94571406-94571406	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.32G>A; p.G11D; 10:94546377-94546377	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1524delA; p.K509fs*8; 10:94590448-94590448	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Deletion - Frameshift
c.2127T>C; p.H709H; 10:94594733-94594733	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1215T>C; p.F405F; 10:94581508-94581508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2023C>T; p.R675*; 10:94593550-94593550	pancreas	carcinoma	Substitution - Nonsense
c.1832_1833insA; p.R614fs*33; 10:94592293-94592294	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1341C>T; p.F447F; 10:94588243-94588243	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.819T>C; p.P273P; 10:94574667-94574667	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.284A>C; p.K95T; 10:94558146-94558146	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1941G>A; p.G647G; 10:94592484-94592484	central_nervous_system; brain	glioma	Substitution - coding silent
c.1740T>C; p.P580P; 10:94590749-94590749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1796G>C; p.G599A; 10:94592257-94592257	prostate	carcinoma	Substitution - Missense
c.617A>G; p.N206S; 10:94574099-94574099	pancreas	carcinoma	Substitution - Missense
c.309A>T; p.K103N; 10:94558171-94558171	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2289G>T; p.K763N; 10:94596900-94596900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2479G>T; p.E827*; 10:94601584-94601584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2061T>C; p.D687D; 10:94593588-94593588	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.682G>A; p.V228I; 10:94574164-94574164	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1025C>T; p.A342V; 10:94576798-94576798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.536C>T; p.S179L; 10:94574018-94574018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.536C>T; p.S179L; 10:94574018-94574018	skin	malignant_melanoma	Substitution - Missense
c.1238C>G; p.S413C; 10:94582971-94582971	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1019G>A; p.R340Q; 10:94576792-94576792	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1845T>G; p.G615G; 10:94592306-94592306	skin	malignant_melanoma	Substitution - coding silent
c.1224delG; p.S410fs*35; 10:94581517-94581517	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.63G>T; p.L21L; 10:94546408-94546408	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1513A>G; p.T505A; 10:94590437-94590437	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2154T>G; p.V718V; 10:94594760-94594760	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1510C>T; p.P504S; 10:94590434-94590434	skin	malignant_melanoma	Substitution - Missense
c.2291A>C; p.N764T; 10:94596902-94596902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1580A>C; p.E527A; 10:94590504-94590504	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1116A>G; p.R372R; 10:94581409-94581409	kidney	other; neoplasm	Substitution - coding silent
c.1175A>G; p.E392G; 10:94581468-94581468	skin; subungual	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.292G>T; p.E98*; 10:94558154-94558154	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.292G>T; p.E98*; 10:94558154-94558154	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2466A>G; p.I822M; 10:94601571-94601571	thyroid	carcinoma	Substitution - Missense
c.1700T>C; p.L567P; 10:94590709-94590709	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.347T>C; p.I116T; 10:94562704-94562704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2249-10delT; p.?; 10:94596850-94596850	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.2249-10delT; p.?; 10:94596850-94596850	stomach	adenocarcinoma	Unknown
c.1390C>T; p.R464*; 10:94588292-94588292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.685G>A; p.E229K; 10:94574167-94574167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1761A>G; p.E587E; 10:94590770-94590770	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1803C>G; p.F601L; 10:94592264-94592264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1847A>G; p.H616R; 10:94592308-94592308	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1528C>T; p.R510*; 10:94590452-94590452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1971C>T; p.N657N; 10:94592514-94592514	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.213G>A; p.L71L; 10:94554185-94554185	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2146C>T; p.P716S; 10:94594752-94594752	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.231A>C; p.I77I; 10:94554203-94554203	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.231A>C; p.I77I; 10:94554203-94554203	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1717C>T; p.H573Y; 10:94590726-94590726	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1531C>A; p.R511R; 10:94590455-94590455	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2207C>T; p.A736V; 10:94594813-94594813	breast	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]