Entrez Gene

Basic Information
Gene ID	55602
Name	CDKN2AIP
Synonymous	CDKN2A interacting protein;CDKN2AIP;CDKN2A interacting protein
Definition	CDKN2A-interacting protein\|collaborates/cooperates with ARF (alternate reading frame) protein\|collaborator of ARF
Position	4q35.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.547A>G; p.I183V; 4:183446231-183446231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1473G>A; p.L491L; 4:183447157-183447157	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.511C>T; p.Q171*; 4:183446195-183446195	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.444delA; p.N150fs*30; 4:183446128-183446128	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.623G>A; p.R208Q; 4:183446307-183446307	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.358G>C; p.E120Q; 4:183445620-183445620	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1145C>T; p.S382F; 4:183446829-183446829	skin	malignant_melanoma	Substitution - Missense
c.407G>T; p.G136V; 4:183446091-183446091	breast	carcinoma	Substitution - Missense
c.1297G>A; p.V433M; 4:183446981-183446981	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.27G>C; p.L9L; 4:183444824-183444824	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.27G>C; p.L9L; 4:183444824-183444824	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1716A>G; p.A572A; 4:183447400-183447400	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.195C>T; p.S65S; 4:183444992-183444992	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.531G>C; p.T177T; 4:183446215-183446215	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1459G>T; p.E487*; 4:183447143-183447143	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1201A>G; p.S401G; 4:183446885-183446885	breast	carcinoma	Substitution - Missense
c.529A>G; p.T177A; 4:183446213-183446213	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.261C>T; p.F87F; 4:183445058-183445058	skin	malignant_melanoma	Substitution - coding silent
c.572C>T; p.A191V; 4:183446256-183446256	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.555_556delAG; p.S187fs*14; 4:183446239-183446240	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.964A>G; p.K322E; 4:183446648-183446648	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1601T>C; p.L534S; 4:183447285-183447285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.839C>T; p.S280L; 4:183446523-183446523	breast	carcinoma	Substitution - Missense
c.358G>A; p.E120K; 4:183445620-183445620	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.714A>G; p.K238K; 4:183446398-183446398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1546T>G; p.C516G; 4:183447230-183447230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.121C>T; p.R41C; 4:183444918-183444918	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.865G>A; p.E289K; 4:183446549-183446549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1047C>T; p.S349S; 4:183446731-183446731	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1047C>T; p.S349S; 4:183446731-183446731	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.830C>T; p.S277F; 4:183446514-183446514	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1708C>A; p.P570T; 4:183447392-183447392	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.796A>G; p.S266G; 4:183446480-183446480	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.383_384insA; p.G129fs*5; 4:183445645-183445646	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.1272C>A; p.F424L; 4:183446956-183446956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.295A>G; p.K99E; 4:183445557-183445557	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1436A>C; p.D479A; 4:183447120-183447120	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1526C>T; p.S509F; 4:183447210-183447210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.489C>A; p.A163A; 4:183446173-183446173	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1190C>T; p.A397V; 4:183446874-183446874	skin	malignant_melanoma	Substitution - Missense
c.190G>C; p.E64Q; 4:183444987-183444987	oesophagus	carcinoma	Substitution - Missense
c.664G>A; p.V222I; 4:183446348-183446348	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.914T>G; p.L305R; 4:183446598-183446598	prostate	adenoma	Substitution - Missense
c.1412T>C; p.I471T; 4:183447096-183447096	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.343T>G; p.Y115D; 4:183445605-183445605	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1367G>A; p.G456D; 4:183447051-183447051	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.528A>G; p.S176S; 4:183446212-183446212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1106C>T; p.S369L; 4:183446790-183446790	breast	carcinoma	Substitution - Missense
c.1416G>A; p.E472E; 4:183447100-183447100	pancreas	carcinoma	Substitution - coding silent
c.1416G>A; p.E472E; 4:183447100-183447100	pancreas	carcinoma	Substitution - coding silent
c.1409C>G; p.A470G; 4:183447093-183447093	skin	malignant_melanoma	Substitution - Missense
c.867G>T; p.E289D; 4:183446551-183446551	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.412G>C; p.E138Q; 4:183446096-183446096	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1108C>T; p.L370L; 4:183446792-183446792	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.796A>C; p.S266R; 4:183446480-183446480	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.916T>C; p.L306L; 4:183446600-183446600	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.616G>T; p.G206*; 4:183446300-183446300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1468G>T; p.D490Y; 4:183447152-183447152	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1468G>T; p.D490Y; 4:183447152-183447152	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1556G>A; p.S519N; 4:183447240-183447240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.829T>C; p.S277P; 4:183446513-183446513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1691C>T; p.S564L; 4:183447375-183447375	liver	carcinoma	Substitution - Missense
c.1691C>T; p.S564L; 4:183447375-183447375	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.424delA; p.K143fs*4; 4:183446108-183446108	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.424delA; p.K143fs*4; 4:183446108-183446108	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.424delA; p.K143fs*4; 4:183446108-183446108	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.547A>T; p.I183F; 4:183446231-183446231	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.274T>C; p.Y92H; 4:183445536-183445536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.452G>A; p.S151N; 4:183446136-183446136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1250C>G; p.S417*; 4:183446934-183446934	parathyroid	carcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]