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	4524
Symbol	MTHFR
Synonymous	-
Full name	methylenetetrahydrofolate reductase (NAD(P)H)
Gene description	5,10-methylenetetrahydrofolate reductase (NADPH)\|methylenetetrahydrofolate reductase
Cytoband	1p36.3
Gene type	protein-coding
Synonymous	MIM:607093; HGNC:HGNC:7436; Ensembl:ENSG00000177000; HPRD:06158; Vega:OTTHUMG00000002277

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.712C>T; p.R238C; 1:11796274-11796274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1005_1006CC>TT; p.(=); 1:11795123-11795124	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1222C>T; p.L408L; 1:11794483-11794483	skin	malignant_melanoma	Substitution - coding silent
c.443T>G; p.L148R; 1:11801193-11801193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1603C>T; p.R535W; 1:11792307-11792307	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.437A>G; p.K146R; 1:11801199-11801199	kidney	other; neoplasm	Substitution - Missense
c.614G>A; p.G205E; 1:11796372-11796372	skin	malignant_melanoma	Substitution - Missense
c.1088G>A; p.R363H; 1:11794807-11794807	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1088G>A; p.R363H; 1:11794807-11794807	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1088G>A; p.R363H; 1:11794807-11794807	prostate	carcinoma	Substitution - Missense
c.333G>A; p.M111I; 1:11801303-11801303	NS	NS	Substitution - Missense
c.1053C>G; p.L351L; 1:11794842-11794842	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1254G>A; p.L418L; 1:11794451-11794451	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1462A>G; p.I488V; 1:11793975-11793975	breast	carcinoma	Substitution - Missense
c.1739delT; p.F580fs*>77; 1:11791220-11791220	prostate	adenoma	Deletion - Frameshift
c.1928delT; p.L643fs*>14; 1:11790723-11790723	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1558G>C; p.E520Q; 1:11792352-11792352	breast	carcinoma	Substitution - Missense
c.1581A>G; p.Q527Q; 1:11792329-11792329	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1949C>T; p.A650V; 1:11790702-11790702	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1098C>G; p.F366L; 1:11794797-11794797	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.547C>T; p.R183*; 1:11800251-11800251	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.245G>A; p.R82Q; 1:11801391-11801391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.245G>A; p.R82Q; 1:11801391-11801391	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.449T>C; p.L150P; 1:11801187-11801187	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3G>C; p.M1I; 1:11803114-11803114	thyroid	other; neoplasm	Substitution - Missense
c.1202A>G; p.K401R; 1:11794503-11794503	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1378C>G; p.L460V; 1:11794059-11794059	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.792C>T; p.S264S; 1:11795337-11795337	skin	malignant_melanoma	Substitution - coding silent
c.792C>T; p.S264S; 1:11795337-11795337	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.576C>G; p.I192M; 1:11800222-11800222	thyroid	other; neoplasm	Substitution - Missense
c.819G>A; p.K273K; 1:11795310-11795310	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1135C>A; p.Q379K; 1:11794760-11794760	central_nervous_system; brain	glioma	Substitution - Missense
c.155G>A; p.R52Q; 1:11802962-11802962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.316G>T; p.E106*; 1:11801320-11801320	NS	NS	Substitution - Nonsense
c.1072C>T; p.R358*; 1:11794823-11794823	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.708C>T; p.F236F; 1:11796278-11796278	skin	malignant_melanoma	Substitution - coding silent
c.1234T>C; p.S412P; 1:11794471-11794471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1799A>C; p.E600A; 1:11790852-11790852	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1224G>C; p.L408L; 1:11794481-11794481	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.395G>A; p.R132H; 1:11801241-11801241	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1378C>T; p.L460L; 1:11794059-11794059	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.805G>A; p.V269M; 1:11795324-11795324	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1130G>A; p.R377H; 1:11794765-11794765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1130G>A; p.R377H; 1:11794765-11794765	pancreas	carcinoma	Substitution - Missense
c.1755C>T; p.D585D; 1:11790896-11790896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1417C>A; p.R473R; 1:11794020-11794020	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1160G>A; p.G387D; 1:11794735-11794735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.893G>A; p.G298D; 1:11795236-11795236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.160G>C; p.E54Q; 1:11802957-11802957	urinary_tract; bladder	carcinoma	Substitution - Missense
c.676A>T; p.I226F; 1:11796310-11796310	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.907G>A; p.V303M; 1:11795222-11795222	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.573C>G; p.D191E; 1:11800225-11800225	thyroid	other; neoplasm	Substitution - Missense
c.665C>T; p.A222V; 1:11796321-11796321	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.665C>T; p.A222V; 1:11796321-11796321	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.665C>T; p.A222V; 1:11796321-11796321	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1815C>A; p.S605S; 1:11790836-11790836	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1815C>A; p.S605S; 1:11790836-11790836	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1815C>A; p.S605S; 1:11790836-11790836	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1183C>T; p.P395S; 1:11794522-11794522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.978G>A; p.E326E; 1:11795151-11795151	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.220G>C; p.V74L; 1:11802897-11802897	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.17G>C; p.R6T; 1:11803100-11803100	breast	carcinoma	Substitution - Missense
c.419G>A; p.G140D; 1:11801217-11801217	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1668G>A; p.P556P; 1:11791291-11791291	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1668G>A; p.P556P; 1:11791291-11791291	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1817G>A; p.R606H; 1:11790834-11790834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.572A>T; p.D191V; 1:11800226-11800226	thyroid	other; neoplasm	Substitution - Missense
c.129G>C; p.E43D; 1:11802988-11802988	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.884G>T; p.R295L; 1:11795245-11795245	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.686T>C; p.L229P; 1:11796300-11796300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1037C>A; p.P346H; 1:11794858-11794858	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.527T>C; p.V176A; 1:11800271-11800271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1694C>T; p.P565L; 1:11791265-11791265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1694C>T; p.P565L; 1:11791265-11791265	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1081G>C; p.D361H; 1:11794814-11794814	breast	carcinoma	Substitution - Missense
c.1640A>C; p.N547T; 1:11791319-11791319	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.667G>A; p.D223N; 1:11796319-11796319	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.789C>A; p.H263Q; 1:11795340-11795340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.616A>G; p.S206G; 1:11796370-11796370	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.566A>T; p.Y189F; 1:11800232-11800232	thyroid	other; neoplasm	Substitution - Missense
c.1070G>A; p.R357H; 1:11794825-11794825	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.472G>T; p.G158*; 1:11801164-11801164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.426G>T; p.L142L; 1:11801210-11801210	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1494G>C; p.V498V; 1:11793943-11793943	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1946delA; p.N649fs*>8; 1:11790705-11790705	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1738T>C; p.F580L; 1:11791221-11791221	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.942_943delGG; p.L314fs*27; 1:11795186-11795187	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.310G>T; p.D104Y; 1:11801326-11801326	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.60C>T; p.S20S; 1:11803057-11803057	pancreas	carcinoma	Substitution - coding silent
c.60C>T; p.S20S; 1:11803057-11803057	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1286A>C; p.E429A; 1:11794419-11794419	skin	malignant_melanoma	Substitution - Missense
c.1286A>C; p.E429A; 1:11794419-11794419	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1286A>C; p.E429A; 1:11794419-11794419	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1286A>C; p.E429A; 1:11794419-11794419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1286A>C; p.E429A; 1:11794419-11794419	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1468G>A; p.G490R; 1:11793969-11793969	large_intestine; colon	NS	Substitution - Missense
c.1468G>A; p.G490R; 1:11793969-11793969	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.847G>A; p.V283M; 1:11795282-11795282	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.465G>A; p.A155A; 1:11801171-11801171	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.465G>A; p.A155A; 1:11801171-11801171	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1186G>C; p.A396P; 1:11794519-11794519	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.469C>T; p.R157W; 1:11801167-11801167	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134C; 1:11801236-11801236	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1152C>T; p.F384F; 1:11794743-11794743	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.509G>A; p.G170E; 1:11800289-11800289	breast	carcinoma	Substitution - Missense
c.215G>A; p.G72E; 1:11802902-11802902	NS	NS	Substitution - Missense
c.1267G>A; p.E423K; 1:11794438-11794438	breast	carcinoma	Substitution - Missense
c.152G>A; p.R51Q; 1:11802965-11802965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.676A>G; p.I226V; 1:11796310-11796310	breast	carcinoma	Substitution - Missense
c.1483G>A; p.D495N; 1:11793954-11793954	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.628G>T; p.D210Y; 1:11796358-11796358	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1364G>A; p.W455*; 1:11794073-11794073	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.406G>A; p.E136K; 1:11801230-11801230	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1003C>T; p.R335C; 1:11795126-11795126	stomach	adenocarcinoma	Substitution - Missense
c.1470G>A; p.G490G; 1:11793967-11793967	NS	NS	Substitution - coding silent
c.548G>T; p.R183L; 1:11800250-11800250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.548G>A; p.R183Q; 1:11800250-11800250	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.548G>A; p.R183Q; 1:11800250-11800250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163G>A; p.R388H; 1:11794732-11794732	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1102G>T; p.A368S; 1:11794793-11794793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1567G>T; p.E523*; 1:11792343-11792343	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.9C>A; p.N3K; 1:11803108-11803108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1443C>T; p.T481T; 1:11793994-11793994	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.154C>T; p.R52*; 1:11802963-11802963	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1565C>T; p.A522V; 1:11792345-11792345	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1178C>T; p.S393F; 1:11794527-11794527	skin	malignant_melanoma	Substitution - Missense
c.1317C>T; p.L439L; 1:11794388-11794388	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation