lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	2624
Symbol	GATA2
Synonymous	DCML\|IMD21\|MONOMAC\|NFE1B
Full name	GATA binding protein 2
Gene description	endothelial transcription factor GATA-2
Cytoband	3q21.3
Gene type	protein-coding
Synonymous	MIM:137295; HGNC:HGNC:4171; Ensembl:ENSG00000179348; HPRD:00673; Vega:OTTHUMG00000159689

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.996C>A; p.L332L; 3:128483881-128483881	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1168A>G; p.K390E; 3:128481294-128481294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1168A>G; p.K390E; 3:128481294-128481294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.666G>A; p.K222K; 3:128485932-128485932	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.327G>A; p.A109A; 3:128486271-128486271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1085G>C; p.R362P; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.522A>C; p.P174P; 3:128486076-128486076	prostate	carcinoma	Substitution - coding silent
c.1085G>C; p.R362P; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1085G>C; p.R362P; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.684C>T; p.P228P; 3:128485914-128485914	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1198A>T; p.M400L; 3:128481264-128481264	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.788G>A; p.G263E; 3:128485810-128485810	skin	malignant_melanoma	Substitution - Missense
c.954_955insTCC; p.A318_C319insS; 3:128483922-128483923	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.1123C>A; p.L375I; 3:128481839-128481839	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.373C>A; p.P125T; 3:128486225-128486225	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1187G>A; p.R396Q; 3:128481275-128481275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.638A>T; p.Y213F; 3:128485960-128485960	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.950A>G; p.N317S; 3:128483927-128483927	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.950A>G; p.N317S; 3:128483927-128483927	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1075T>C; p.L359L; 3:128481887-128481887	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.953C>G; p.A318G; 3:128483924-128483924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.953C>G; p.A318G; 3:128483924-128483924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.989G>A; p.R330Q; 3:128483888-128483888	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.989G>A; p.R330Q; 3:128483888-128483888	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.847C>T; p.R283C; 3:128485751-128485751	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1079G>T; p.W360L; 3:128481883-128481883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1079G>T; p.W360L; 3:128481883-128481883	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.166G>A; p.G56S; 3:128486866-128486866	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.923G>A; p.R308Q; 3:128483954-128483954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.923G>A; p.R308Q; 3:128483954-128483954	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.878G>A; p.R293Q; 3:128483999-128483999	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1432G>T; p.A478S; 3:128481030-128481030	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.952G>A; p.A318T; 3:128483925-128483925	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.952G>A; p.A318T; 3:128483925-128483925	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.988C>T; p.R330*; 3:128483889-128483889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.952G>A; p.A318T; 3:128483925-128483925	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.952G>A; p.A318T; 3:128483925-128483925	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.326C>T; p.A109V; 3:128486272-128486272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1150A>G; p.R384G; 3:128481312-128481312	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1084C>G; p.R362G; 3:128481878-128481878	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1084C>G; p.R362G; 3:128481878-128481878	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.44C>T; p.A15V; 3:128486988-128486988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.15C>G; p.P5P; 3:128487017-128487017	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.15C>G; p.P5P; 3:128487017-128487017	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.961C>T; p.L321F; 3:128483916-128483916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.961C>T; p.L321F; 3:128483916-128483916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.15C>G; p.P5P; 3:128487017-128487017	thyroid	other; neoplasm	Substitution - coding silent
c.961C>T; p.L321F; 3:128483916-128483916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.961C>T; p.L321F; 3:128483916-128483916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.961C>T; p.L321F; 3:128483916-128483916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.961C>T; p.L321F; 3:128483916-128483916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.15C>G; p.P5P; 3:128487017-128487017	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.15C>G; p.P5P; 3:128487017-128487017	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1397_1398CC>TT; p.S466F; 3:128481064-128481065	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1379A>C; p.H460P; 3:128481083-128481083	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.529C>T; p.P177S; 3:128486069-128486069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1373C>A; p.P458H; 3:128481089-128481089	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1154C>T; p.P385L; 3:128481308-128481308	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.212C>T; p.S71F; 3:128486820-128486820	skin	malignant_melanoma	Substitution - Missense
c.1154C>T; p.P385L; 3:128481308-128481308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.524C>T; p.P175L; 3:128486074-128486074	skin	malignant_melanoma	Substitution - Missense
c.1430C>T; p.T477I; 3:128481032-128481032	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1430C>T; p.T477I; 3:128481032-128481032	skin	malignant_melanoma	Substitution - Missense
c.927C>T; p.D309D; 3:128483950-128483950	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.141C>T; p.V47V; 3:128486891-128486891	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.911C>A; p.P304H; 3:128483966-128483966	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.962T>C; p.L321P; 3:128483915-128483915	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.911C>A; p.P304H; 3:128483966-128483966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.911C>A; p.P304H; 3:128483966-128483966	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.203C>T; p.A68V; 3:128486829-128486829	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.961C>G; p.L321V; 3:128483916-128483916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.961C>G; p.L321V; 3:128483916-128483916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.913C>T; p.L305F; 3:128483964-128483964	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1168_1170delAAG; p.K390delK; 3:128481292-128481294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - In frame
c.1168_1170delAAG; p.K390delK; 3:128481292-128481294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Deletion - In frame
c.1168_1170delAAG; p.K390delK; 3:128481292-128481294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - In frame
c.1185T>G; p.T395T; 3:128481277-128481277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1085G>A; p.R362Q; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1085G>A; p.R362Q; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1085G>A; p.R362Q; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1085G>A; p.R362Q; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1085G>A; p.R362Q; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1085G>A; p.R362Q; 3:128481877-128481877	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1085G>A; p.R362Q; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1085G>A; p.R362Q; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.962T>G; p.L321R; 3:128483915-128483915	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.962T>G; p.L321R; 3:128483915-128483915	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.631G>A; p.V211I; 3:128485967-128485967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.599delG; p.G200fs*18; 3:128485999-128485999	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.599delG; p.G200fs*18; 3:128485999-128485999	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.599delG; p.G200fs*18; 3:128485999-128485999	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1075T>G; p.L359V; 3:128481887-128481887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.1075T>G; p.L359V; 3:128481887-128481887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.1075T>G; p.L359V; 3:128481887-128481887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.1075T>G; p.L359V; 3:128481887-128481887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.1075T>G; p.L359V; 3:128481887-128481887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.1075T>G; p.L359V; 3:128481887-128481887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1075T>G; p.L359V; 3:128481887-128481887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.1075T>G; p.L359V; 3:128481887-128481887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.1075T>G; p.L359V; 3:128481887-128481887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.1387T>C; p.S463P; 3:128481075-128481075	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.386_386delC; p.S129fs*1; 3:128486212-128486212	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.744C>T; p.T248T; 3:128485854-128485854	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1089C>T; p.N363N; 3:128481873-128481873	liver	carcinoma	Substitution - coding silent
c.1089C>T; p.N363N; 3:128481873-128481873	liver	carcinoma	Substitution - coding silent
c.1018-1G>T; p.?; 3:128481945-128481945	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.924G>T; p.R308R; 3:128483953-128483953	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.919C>T; p.R307W; 3:128483958-128483958	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.919C>T; p.R307W; 3:128483958-128483958	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.755A>T; p.Y252F; 3:128485843-128485843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.230-1G>A; p.?; 3:128486369-128486369	skin	malignant_melanoma	Unknown
c.240C>T; p.T80T; 3:128486358-128486358	skin	malignant_melanoma	Substitution - coding silent
c.149A>G; p.N50S; 3:128486883-128486883	prostate	carcinoma	Substitution - Missense
c.497C>G; p.S166C; 3:128486101-128486101	ovary	other; neoplasm	Substitution - Missense
c.661A>T; p.M221L; 3:128485937-128485937	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.923G>C; p.R308P; 3:128483954-128483954	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.923G>C; p.R308P; 3:128483954-128483954	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1302T>A; p.A434A; 3:128481160-128481160	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.904G>T; p.A302S; 3:128483973-128483973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1348G>A; p.G450R; 3:128481114-128481114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1392C>A; p.S464R; 3:128481070-128481070	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1344C>T; p.H448H; 3:128481118-128481118	skin	malignant_melanoma	Substitution - coding silent
c.1327C>A; p.L443I; 3:128481135-128481135	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Substitution - Missense
c.1327C>A; p.L443I; 3:128481135-128481135	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.71_72delCA; p.H25fs*159; 3:128486960-128486961	prostate	carcinoma	Deletion - Frameshift
c.949A>C; p.N317H; 3:128483928-128483928	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.458G>A; p.G153E; 3:128486140-128486140	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.260C>G; p.P87R; 3:128486338-128486338	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.920G>T; p.R307L; 3:128483957-128483957	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.588T>A; p.S196S; 3:128486010-128486010	oesophagus	carcinoma	Substitution - coding silent
c.1114G>A; p.A372T; 3:128481848-128481848	breast	carcinoma	Substitution - Missense
c.1114G>A; p.A372T; 3:128481848-128481848	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.800C>T; p.P267L; 3:128485798-128485798	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1095C>T; p.N365N; 3:128481867-128481867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1193G>A; p.R398Q; 3:128481269-128481269	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1085delG; p.R362fs*25; 3:128481877-128481877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1374C>A; p.P458P; 3:128481088-128481088	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1290A>C; p.A430A; 3:128481172-128481172	skin	malignant_melanoma	Substitution - coding silent
c.1082G>A; p.R361H; 3:128481880-128481880	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1082G>A; p.R361H; 3:128481880-128481880	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.630C>T; p.G210G; 3:128485968-128485968	pancreas	carcinoma	Substitution - coding silent
c.235C>G; p.L79V; 3:128486363-128486363	breast	carcinoma	Substitution - Missense
c.1136T>A; p.L379Q; 3:128481826-128481826	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.950A>T; p.N317I; 3:128483927-128483927	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1383C>T; p.P461P; 3:128481079-128481079	skin	malignant_melanoma	Substitution - coding silent
c.1417T>C; p.S473P; 3:128481045-128481045	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.983A>C; p.Q328P; 3:128483894-128483894	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.982C>T; p.Q328*; 3:128483895-128483895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.713C>T; p.T238I; 3:128485885-128485885	skin	malignant_melanoma	Substitution - Missense
c.237G>A; p.L79L; 3:128486361-128486361	skin	malignant_melanoma	Substitution - coding silent
c.1052_1053ins24; p.A350_N351insKLSGTCCA; 3:128481909-128481910	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.369G>T; p.K123N; 3:128486229-128486229	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1012A>T; p.R338*; 3:128483865-128483865	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.161C>G; p.S54W; 3:128486871-128486871	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1204A>C; p.N402H; 3:128481258-128481258	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.371C>T; p.T124M; 3:128486227-128486227	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.513C>T; p.F171F; 3:128486085-128486085	skin	malignant_melanoma	Substitution - coding silent
c.513C>T; p.F171F; 3:128486085-128486085	skin	malignant_melanoma	Substitution - coding silent
c.890A>G; p.N297S; 3:128483987-128483987	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.723T>C; p.A241A; 3:128485875-128485875	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.723T>C; p.A241A; 3:128485875-128485875	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1281delC; p.F428fs*49; 3:128481181-128481181	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1061C>A; p.T354K; 3:128481901-128481901	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1021_1038del18; p.A341_G346delAARRAG; 3:128481924-128481941	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Deletion - In frame
c.1437G>A; p.M479I; 3:128481025-128481025	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.1437G>A; p.M479I; 3:128481025-128481025	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.959G>A; p.G320D; 3:128483918-128483918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.959G>A; p.G320D; 3:128483918-128483918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.959G>A; p.G320D; 3:128483918-128483918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.959G>A; p.G320D; 3:128483918-128483918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.959G>A; p.G320D; 3:128483918-128483918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.815G>A; p.G272E; 3:128485783-128485783	skin	malignant_melanoma	Substitution - Missense
c.211T>C; p.S71P; 3:128486821-128486821	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.762G>A; p.P254P; 3:128485836-128485836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.193C>G; p.H65D; 3:128486839-128486839	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.691C>T; p.P231S; 3:128485907-128485907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.953C>T; p.A318V; 3:128483924-128483924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.953C>T; p.A318V; 3:128483924-128483924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.953C>T; p.A318V; 3:128483924-128483924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.953C>T; p.A318V; 3:128483924-128483924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1125C>T; p.L375L; 3:128481837-128481837	skin	malignant_melanoma	Substitution - coding silent
c.490G>A; p.A164T; 3:128486108-128486108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.490G>A; p.A164T; 3:128486108-128486108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1069A>T; p.T357S; 3:128481893-128481893	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.490G>A; p.A164T; 3:128486108-128486108	breast	carcinoma	Substitution - Missense
c.1068C>A; p.T356T; 3:128481894-128481894	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.962T>A; p.L321H; 3:128483915-128483915	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.318T>A; p.S106S; 3:128486280-128486280	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1096G>A; p.G366R; 3:128481866-128481866	skin	malignant_melanoma	Substitution - Missense
c.530C>A; p.P177Q; 3:128486068-128486068	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1096G>A; p.G366R; 3:128481866-128481866	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.688C>T; p.R230C; 3:128485910-128485910	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.872-7C>T; p.?; 3:128484012-128484012	liver	carcinoma	Unknown
c.416_417delCT; p.S139fs*45; 3:128486181-128486182	pancreas	other; pancreatoblastoma	Deletion - Frameshift
c.739C>G; p.P247A; 3:128485859-128485859	skin	malignant_melanoma	Substitution - Missense
c.1151G>A; p.R384K; 3:128481311-128481311	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.915_916delCT; p.W306fs*77; 3:128483961-128483962	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1163T>C; p.M388T; 3:128481299-128481299	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1401C>T; p.F467F; 3:128481061-128481061	skin	malignant_melanoma	Substitution - coding silent
c.1332G>A; p.P444P; 3:128481130-128481130	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1416G>A; p.P472P; 3:128481046-128481046	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.1416G>A; p.P472P; 3:128481046-128481046	pancreas	carcinoma	Substitution - coding silent
c.1419C>T; p.S473S; 3:128481043-128481043	skin	malignant_melanoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation