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	6573
Symbol	SLC19A1
Synonymous	CHMD\|FOLT\|IFC1\|REFC\|RFC1
Full name	solute carrier family 19 (folate transporter), member 1
Gene description	IFC-1\|RFC\|folate transporter 1\|intestinal folate carrier 1\|placental folate transporter\|reduced folate carrier protein\|solute carrier family 19 member 1
Cytoband	21q22.3
Gene type	protein-coding
Synonymous	MIM:600424; HGNC:HGNC:10937; Ensembl:ENSG00000173638; HPRD:02691; Vega:OTTHUMG00000090397

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.425C>T; p.S142F; 21:45531913-45531913	skin	malignant_melanoma	Substitution - Missense
c.1622C>A; p.T541K; 21:45515812-45515812	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1442C>T; p.A481V; 21:45515992-45515992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.727C>T; p.R243W; 21:45531611-45531611	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.218C>T; p.S73L; 21:45532120-45532120	skin; extremity	malignant_melanoma	Substitution - Missense
c.757C>T; p.R253W; 21:45531581-45531581	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.350C>T; p.A117V; 21:45531988-45531988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1511delC; p.P504fs*34; 21:45515923-45515923	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.297G>A; p.Q99Q; 21:45532041-45532041	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1307C>T; p.S436F; 21:45516127-45516127	skin	malignant_melanoma	Substitution - Missense
c.966C>T; p.F322F; 21:45530955-45530955	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.951C>T; p.G317G; 21:45530970-45530970	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.891C>A; p.P297P; 21:45531447-45531447	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1189G>A; p.A397T; 21:45525921-45525921	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1502C>T; p.P501L; 21:45515932-45515932	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1276C>A; p.L426I; 21:45525834-45525834	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.280C>T; p.P94S; 21:45532058-45532058	skin	malignant_melanoma	Substitution - Missense
c.1624A>G; p.T542A; 21:45515810-45515810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1508_1509CC>TT; p.S503F; 21:45515925-45515926	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.813C>T; p.S271S; 21:45531525-45531525	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.721G>A; p.A241T; 21:45531617-45531617	central_nervous_system; brain	glioma	Substitution - Missense
c.814C>T; p.L272F; 21:45531524-45531524	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.928G>A; p.D310N; 21:45531410-45531410	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1227C>T; p.I409I; 21:45525883-45525883	skin	malignant_melanoma	Substitution - coding silent
c.959C>T; p.T320M; 21:45530962-45530962	skin	malignant_melanoma	Substitution - Missense
c.80A>G; p.H27R; 21:45537880-45537880	urinary_tract; bladder	carcinoma	Substitution - Missense
c.80A>G; p.H27R; 21:45537880-45537880	thyroid	other; neoplasm	Substitution - Missense
c.80A>G; p.H27R; 21:45537880-45537880	thyroid	other; neoplasm	Substitution - Missense
c.80A>G; p.H27R; 21:45537880-45537880	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.968C>T; p.A323V; 21:45530953-45530953	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.906G>A; p.A302A; 21:45531432-45531432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1424C>T; p.A475V; 21:45516010-45516010	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1200C>T; p.F400F; 21:45525910-45525910	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.645C>T; p.D215D; 21:45531693-45531693	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.403G>A; p.A135T; 21:45531935-45531935	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1456G>T; p.V486L; 21:45515978-45515978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.812C>T; p.S271F; 21:45531526-45531526	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1670A>T; p.E557V; 21:45515764-45515764	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1020G>A; p.A340A; 21:45530901-45530901	stomach	adenocarcinoma	Substitution - coding silent
c.1503G>A; p.P501P; 21:45515931-45515931	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1503G>A; p.P501P; 21:45515931-45515931	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1503G>A; p.P501P; 21:45515931-45515931	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1503G>A; p.P501P; 21:45515931-45515931	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.788G>A; p.R263Q; 21:45531550-45531550	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.434G>A; p.R145Q; 21:45531904-45531904	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1226T>C; p.I409T; 21:45525884-45525884	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1005C>T; p.S335S; 21:45530916-45530916	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.727C>A; p.R243R; 21:45531611-45531611	central_nervous_system; brain	glioma	Substitution - coding silent
c.303C>A; p.L101L; 21:45532035-45532035	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1194G>T; p.L398L; 21:45525916-45525916	skin	malignant_melanoma	Substitution - coding silent
c.39C>T; p.P13P; 21:45537921-45537921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1589C>T; p.A530V; 21:45515845-45515845	large_intestine; colon	adenoma	Substitution - Missense
c.614G>A; p.R205H; 21:45531724-45531724	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.430G>A; p.V144M; 21:45531908-45531908	central_nervous_system; brain	glioma	Substitution - Missense
c.1704C>T; p.V568V; 21:45515730-45515730	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.552G>A; p.T184T; 21:45531786-45531786	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.729G>A; p.R243R; 21:45531609-45531609	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.729G>A; p.R243R; 21:45531609-45531609	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.281C>T; p.P94L; 21:45532057-45532057	breast	carcinoma	Substitution - Missense
c.538G>T; p.V180F; 21:45531800-45531800	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.526A>G; p.T176A; 21:45531812-45531812	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.905C>T; p.A302V; 21:45531433-45531433	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.905C>T; p.A302V; 21:45531433-45531433	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.291G>A; p.L97L; 21:45532047-45532047	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.769G>A; p.E257K; 21:45531569-45531569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.560A>C; p.Y187S; 21:45531778-45531778	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.678G>A; p.E226E; 21:45531660-45531660	prostate	carcinoma	Substitution - coding silent
c.1222A>G; p.T408A; 21:45525888-45525888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1024G>A; p.V342I; 21:45530897-45530897	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1024G>A; p.V342I; 21:45530897-45530897	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1444delC; p.Q482fs*3; 21:45515990-45515990	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.861C>T; p.Y287Y; 21:45531477-45531477	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.442C>T; p.R148C; 21:45531896-45531896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.472G>A; p.A158T; 21:45531866-45531866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1236C>T; p.T412T; 21:45525874-45525874	skin	malignant_melanoma	Substitution - coding silent
c.584T>C; p.F195S; 21:45531754-45531754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.278C>T; p.T93M; 21:45532060-45532060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.T184M; 21:45531787-45531787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1194_1195GG>AT; p.V399F; 21:45525915-45525916	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.802C>T; p.R268C; 21:45531536-45531536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.696T>C; p.P232P; 21:45531642-45531642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.696T>C; p.P232P; 21:45531642-45531642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.696T>C; p.P232P; 21:45531642-45531642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.696T>C; p.P232P; 21:45531642-45531642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1681G>A; p.E561K; 21:45515753-45515753	thyroid	other; neoplasm	Substitution - Missense
c.696T>C; p.P232P; 21:45531642-45531642	thyroid	other; neoplasm	Substitution - coding silent
c.481C>T; p.L161L; 21:45531857-45531857	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.790C>T; p.R264W; 21:45531548-45531548	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1545C>T; p.S515S; 21:45515889-45515889	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.918C>T; p.N306N; 21:45531420-45531420	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1554G>C; p.Q518H; 21:45515880-45515880	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.682G>A; p.E228K; 21:45531656-45531656	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.838G>A; p.G280S; 21:45531500-45531500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation