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	4595
Symbol	MUTYH
Synonymous	MYH
Full name	mutY homolog
Gene description	A/G-specific adenine DNA glycosylase
Cytoband	1p34.1
Gene type	protein-coding
Synonymous	MIM:604933; HGNC:HGNC:7527; Ensembl:ENSG00000132781; HPRD:05380; Vega:OTTHUMG00000007682

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.767C>T; p.S256F; 1:45332403-45332403	skin	malignant_melanoma	Substitution - Missense
c.731G>A; p.R244Q; 1:45332439-45332439	skin	malignant_melanoma	Substitution - Missense
c.1301G>A; p.R434Q; 1:45331433-45331433	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.337C>T; p.R113W; 1:45333415-45333415	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1422G>C; p.T474T; 1:45331227-45331227	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.872G>A; p.R291H; 1:45332218-45332218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.988G>T; p.A330S; 1:45332023-45332023	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.927G>A; p.V309V; 1:45332084-45332084	skin	malignant_melanoma	Substitution - coding silent
c.1108G>T; p.A370S; 1:45331730-45331730	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.641G>A; p.R214H; 1:45332614-45332614	stomach	adenocarcinoma	Substitution - Missense
c.1604C>G; p.S535C; 1:45329343-45329343	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1284C>T; p.L428L; 1:45331450-45331450	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1557C>T; p.P519P; 1:45329390-45329390	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.676G>T; p.G226C; 1:45332579-45332579	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>G; p.T371S; 1:45331726-45331726	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1070G>T; p.R357I; 1:45331768-45331768	thyroid	other; neoplasm	Substitution - Missense
c.303C>T; p.Y101Y; 1:45333449-45333449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.380-1G>T; p.?; 1:45333171-45333171	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1201T>C; p.F401L; 1:45331533-45331533	skin	malignant_melanoma	Substitution - Missense
c.810C>A; p.A270A; 1:45332280-45332280	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1453A>C; p.T485P; 1:45331196-45331196	breast	carcinoma	Substitution - Missense
c.131G>A; p.S44N; 1:45334417-45334417	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1426G>A; p.E476K; 1:45331223-45331223	skin	malignant_melanoma	Substitution - Missense
c.1162C>T; p.Q388*; 1:45331676-45331676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.442G>A; p.G148R; 1:45333108-45333108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.519C>G; p.G173G; 1:45332811-45332811	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.795G>A; p.Q265Q; 1:45332295-45332295	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.482G>A; p.S161N; 1:45332931-45332931	pancreas	carcinoma	Substitution - Missense
c.595C>A; p.P199T; 1:45332660-45332660	urinary_tract; bladder	carcinoma	Substitution - Missense
c.595C>A; p.P199T; 1:45332660-45332660	urinary_tract; bladder	carcinoma	Substitution - Missense
c.142C>T; p.P48S; 1:45334406-45334406	breast	carcinoma	Substitution - Missense
c.403C>A; p.Q135K; 1:45333147-45333147	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.324A>C; p.L108L; 1:45333428-45333428	pancreas	carcinoma	Substitution - coding silent
c.1586_1587insT; p.F530fs*8; 1:45329360-45329361	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.829C>A; p.Q277K; 1:45332261-45332261	breast	carcinoma	Substitution - Missense
c.921G>C; p.Q307H; 1:45332169-45332169	breast	carcinoma	Substitution - Missense
c.854C>T; p.T285I; 1:45332236-45332236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.562C>T; p.R188W; 1:45332768-45332768	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.827A>C; p.N276T; 1:45332263-45332263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.687C>T; p.T229T; 1:45332483-45332483	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.805C>A; p.P269T; 1:45332285-45332285	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.300G>C; p.W100C; 1:45333452-45333452	ovary	other; neoplasm	Substitution - Missense
c.1343T>C; p.L448P; 1:45331306-45331306	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1217G>C; p.W406S; 1:45331517-45331517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.670G>A; p.A224T; 1:45332585-45332585	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.598C>T; p.R200C; 1:45332657-45332657	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.599G>A; p.R200H; 1:45332656-45332656	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1527G>A; p.Q509Q; 1:45329420-45329420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.252C>T; p.F84F; 1:45333500-45333500	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1267C>T; p.R423C; 1:45331467-45331467	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1240C>T; p.R414C; 1:45331494-45331494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1045A>T; p.T349S; 1:45331793-45331793	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1025C>T; p.P342L; 1:45331813-45331813	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1045A>T; p.T349S; 1:45331793-45331793	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.536G>A; p.R179H; 1:45332794-45332794	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1411C>T; p.R471C; 1:45331238-45331238	NS	NS	Substitution - Missense
c.553G>A; p.E185K; 1:45332777-45332777	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1572A>C; p.Q524H; 1:45329375-45329375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.810_811CC>TT; p.R271W; 1:45332279-45332280	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.910C>T; p.R304W; 1:45332180-45332180	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.16T>G; p.S6A; 1:45340239-45340239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.910C>T; p.R304W; 1:45332180-45332180	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.748C>T; p.P250S; 1:45332422-45332422	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.962C>T; p.S321L; 1:45332049-45332049	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.317G>T; p.R106L; 1:45333435-45333435	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1416G>T; p.W472C; 1:45331233-45331233	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1005G>C; p.Q335H; 1:45331833-45331833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1381A>G; p.T461A; 1:45331268-45331268	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.219A>T; p.V73V; 1:45333533-45333533	skin	malignant_melanoma	Substitution - coding silent
c.158-3C>T; p.?; 1:45333597-45333597	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.895G>T; p.V299L; 1:45332195-45332195	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.851C>A; p.A284D; 1:45332239-45332239	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1028C>T; p.S343L; 1:45331810-45331810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.413A>G; p.Q138R; 1:45333137-45333137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.858G>T; p.V286V; 1:45332232-45332232	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.829C>T; p.Q277*; 1:45332261-45332261	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.811C>T; p.R271W; 1:45332279-45332279	skin	malignant_melanoma	Substitution - Missense
c.811C>T; p.R271W; 1:45332279-45332279	bone; femur	chondrosarcoma	Substitution - Missense
c.213G>A; p.E71E; 1:45333539-45333539	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.456G>A; p.K152K; 1:45332957-45332957	pancreas	carcinoma	Substitution - coding silent
c.456G>A; p.K152K; 1:45332957-45332957	pancreas	carcinoma	Substitution - coding silent
c.1460T>C; p.M487T; 1:45331189-45331189	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.794A>G; p.Q265R; 1:45332296-45332296	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1142G>T; p.G381V; 1:45331696-45331696	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.280C>T; p.R94*; 1:45333472-45333472	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1333C>G; p.H445D; 1:45331316-45331316	breast	carcinoma	Substitution - Missense
c.1178-2A>G; p.?; 1:45331558-45331558	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.1113C>T; p.T371T; 1:45331725-45331725	skin	malignant_melanoma	Substitution - coding silent
c.235T>C; p.S79P; 1:45333517-45333517	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.974A>G; p.D325G; 1:45332037-45332037	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.725G>A; p.R242H; 1:45332445-45332445	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.812G>A; p.R271Q; 1:45332278-45332278	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.69A>G; p.G23G; 1:45334479-45334479	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.381G>A; p.V127V; 1:45333169-45333169	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - coding silent
c.281G>A; p.R94Q; 1:45333471-45333471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.125A>T; p.N42I; 1:45334423-45334423	breast	carcinoma	Substitution - Missense
c.281G>A; p.R94Q; 1:45333471-45333471	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.723C>T; p.C241C; 1:45332447-45332447	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.488C>T; p.S163F; 1:45332925-45332925	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation