Entrez Gene

Basic Information
Gene ID	84417
Name	C2orf40
Synonymous	chromosome 2 open reading frame 40;C2orf40;chromosome 2 open reading frame 40
Definition	augurin\|esophageal cancer related gene 4 protein\|esophageal cancer-related gene 4 protein
Position	2q12.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.168T>C; p.N56N; 2:106073926-106073926	pancreas	carcinoma	Substitution - coding silent
c.168T>C; p.N56N; 2:106073926-106073926	pancreas	carcinoma	Substitution - coding silent
c.271G>A; p.G91S; 2:106074029-106074029	skin	malignant_melanoma	Substitution - Missense
c.168T>C; p.N56N; 2:106073926-106073926	pancreas	carcinoma	Substitution - coding silent
c.235G>A; p.E79K; 2:106073993-106073993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.328A>C; p.N110H; 2:106077807-106077807	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.178G>T; p.E60*; 2:106073936-106073936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.178G>T; p.E60*; 2:106073936-106073936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.184C>T; p.L62F; 2:106073942-106073942	skin	malignant_melanoma	Substitution - Missense
c.74G>A; p.G25D; 2:106065838-106065838	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.134T>C; p.V45A; 2:106073892-106073892	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.392C>A; p.P131H; 2:106077871-106077871	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.224G>A; p.R75Q; 2:106073982-106073982	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.127+2T>C; p.?; 2:106071893-106071893	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.157G>A; p.V53I; 2:106073915-106073915	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.183C>T; p.F61F; 2:106073941-106073941	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.183C>T; p.F61F; 2:106073941-106073941	skin	malignant_melanoma	Substitution - coding silent
c.15C>G; p.P5P; 2:106065779-106065779	thyroid	other; neoplasm	Substitution - coding silent
c.15C>G; p.P5P; 2:106065779-106065779	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.194T>C; p.L65P; 2:106073952-106073952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.209G>A; p.R70Q; 2:106073967-106073967	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.209G>A; p.R70Q; 2:106073967-106073967	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.91G>A; p.G31R; 2:106071855-106071855	skin	malignant_melanoma	Substitution - Missense
c.280G>A; p.E94K; 2:106074038-106074038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.358C>T; p.Q120*; 2:106077837-106077837	skin	malignant_melanoma	Substitution - Nonsense
c.307T>G; p.Y103D; 2:106077786-106077786	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.396G>A; p.R132R; 2:106077875-106077875	skin	malignant_melanoma	Substitution - coding silent
c.99A>C; p.K33N; 2:106071863-106071863	breast	carcinoma	Substitution - Missense
c.349G>A; p.D117N; 2:106077828-106077828	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.325C>T; p.R109*; 2:106077804-106077804	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.325C>T; p.R109*; 2:106077804-106077804	skin	malignant_melanoma	Substitution - Nonsense
c.325C>T; p.R109*; 2:106077804-106077804	skin	malignant_melanoma	Substitution - Nonsense
c.406G>T; p.G136C; 2:106077885-106077885	breast	carcinoma	Substitution - Missense
c.301A>T; p.I101F; 2:106077780-106077780	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.210G>T; p.R70R; 2:106073968-106073968	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.226A>G; p.T76A; 2:106073984-106073984	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.347G>A; p.G116D; 2:106077826-106077826	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6T>C; p.A2A; 2:106065770-106065770	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6T>C; p.A2A; 2:106065770-106065770	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.6T>C; p.A2A; 2:106065770-106065770	thyroid	other; neoplasm	Substitution - coding silent
c.6T>C; p.A2A; 2:106065770-106065770	thyroid	other; neoplasm	Substitution - coding silent
c.407G>A; p.G136D; 2:106077886-106077886	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.199C>T; p.R67C; 2:106073957-106073957	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.269T>C; p.M90T; 2:106074027-106074027	liver	carcinoma	Substitution - Missense
c.269T>C; p.M90T; 2:106074027-106074027	liver	carcinoma	Substitution - Missense
c.234C>G; p.P78P; 2:106073992-106073992	central_nervous_system; brain	glioma	Substitution - coding silent
c.50C>T; p.A17V; 2:106065814-106065814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.376G>T; p.D126Y; 2:106077855-106077855	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.436G>A; p.D146N; 2:106077915-106077915	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.156C>A; p.A52A; 2:106073914-106073914	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.326G>A; p.R109Q; 2:106077805-106077805	skin	malignant_melanoma	Substitution - Missense
c.285G>A; p.A95A; 2:106074043-106074043	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.285G>A; p.A95A; 2:106074043-106074043	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.285G>A; p.A95A; 2:106074043-106074043	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.184C>A; p.L62I; 2:106073942-106073942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.117A>C; p.Q39H; 2:106071881-106071881	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]