Entrez Gene

Basic Information
Gene ID	1027
Name	CDKN1B
Synonymous	cyclin-dependent kinase inhibitor 1B (p27, Kip1);CDKN1B;cyclin-dependent kinase inhibitor 1B (p27, Kip1)
Definition	cyclin-dependent kinase inhibitor 1B
Position	12p13.1-p12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.476-7C>T; p.?; 12:12718818-12718818	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.162_163insGC; p.S56fs*16; 12:12718001-12718002	breast	carcinoma	Insertion - Frameshift
c.233_234insGG; p.V79fs*41; 12:12718072-12718073	breast	carcinoma	Insertion - Frameshift
c.80_83delCGGC; p.C29fs*12; 12:12717919-12717922	breast	carcinoma	Deletion - Frameshift
c.471C>T; p.T157T; 12:12718310-12718310	breast	carcinoma	Substitution - coding silent
c.80C>A; p.S27*; 12:12717919-12717919	breast	carcinoma	Substitution - Nonsense
c.80C>A; p.S27*; 12:12717919-12717919	breast	carcinoma	Substitution - Nonsense
c.127_128delCG; p.R43fs*81; 12:12717966-12717967	breast	carcinoma	Deletion - Frameshift
c.374_375insC; p.E126fs*1; 12:12718213-12718214	breast	carcinoma	Insertion - Frameshift
c.402delG; p.T135fs*10; 12:12718241-12718241	breast	carcinoma	Deletion - Frameshift
c.313G>T; p.E105*; 12:12718152-12718152	breast	carcinoma	Substitution - Nonsense
c.373_374insC; p.E126fs*1; 12:12718212-12718213	breast	carcinoma	Insertion - Frameshift
c.476-2A>C; p.?; 12:12718823-12718823	central_nervous_system; brain	glioma	Unknown
c.320A>G; p.Q107R; 12:12718159-12718159	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.368_371delCTAA; p.N124fs*20; 12:12718207-12718210	central_nervous_system; frontal_lobe	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.189T>G; p.D63E; 12:12718028-12718028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.64G>T; p.E22*; 12:12717903-12717903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.514G>T; p.E172*; 12:12718863-12718863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.109_110insAC; p.H38fs*5; 12:12717948-12717949	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.572C>A; p.P191H; 12:12718921-12718921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.449G>A; p.G150E; 12:12718288-12718288	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.130G>A; p.D44N; 12:12717969-12717969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.51C>A; p.D17E; 12:12717890-12717890	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.206C>T; p.P69L; 12:12718045-12718045	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.545G>A; p.G182D; 12:12718894-12718894	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.285_286insC; p.K96fs*29; 12:12718124-12718125	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.304C>A; p.P102T; 12:12718143-12718143	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.506G>A; p.R169K; 12:12718855-12718855	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.118G>A; p.E40K; 12:12717957-12717957	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.476-5C>T; p.?; 12:12718820-12718820	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.124A>G; p.T42A; 12:12717963-12717963	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.269G>A; p.R90K; 12:12718108-12718108	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.358delG; p.A121fs*24; 12:12718197-12718197	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.358delG; p.A121fs*24; 12:12718197-12718197	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.358delG; p.A121fs*24; 12:12718197-12718197	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.358delG; p.A121fs*24; 12:12718197-12718197	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.358delG; p.A121fs*24; 12:12718197-12718197	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.358delG; p.A121fs*24; 12:12718197-12718197	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.358delG; p.A121fs*24; 12:12718197-12718197	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.358delG; p.A121fs*24; 12:12718197-12718197	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.476-2A>C; p.?; 12:12718823-12718823	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.215G>A; p.G72D; 12:12718054-12718054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.184_186delTTC; p.F62delF; 12:12718023-12718025	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.212_213insG; p.K73fs*52; 12:12718051-12718052	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.511G>T; p.E171*; 12:12718860-12718860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.222C>G; p.Y74*; 12:12718061-12718061	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.409delC; p.P137fs*8; 12:12718248-12718248	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.280delC; p.G97fs*22; 12:12718119-12718119	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.270_271insC; p.R93fs*32; 12:12718109-12718110	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.514G>T; p.E172*; 12:12718863-12718863	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.419_420insC; p.Q141fs*>59; 12:12718258-12718259	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.365C>T; p.P122L; 12:12718204-12718204	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.168C>T; p.S56S; 12:12718007-12718007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.128delG; p.D44fs*27; 12:12717967-12717967	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.315G>A; p.E105E; 12:12718154-12718154	liver	carcinoma	Substitution - coding silent
c.315G>A; p.E105E; 12:12718154-12718154	liver	carcinoma	Substitution - coding silent
c.279_280insC; p.K96fs*29; 12:12718118-12718119	liver	carcinoma	Insertion - Frameshift
c.306G>T; p.P102P; 12:12718145-12718145	liver	carcinoma	Substitution - coding silent
c.306G>T; p.P102P; 12:12718145-12718145	liver	carcinoma	Substitution - coding silent
c.286_287ins11; p.Q104fs*19; 12:12718125-12718126	liver	carcinoma	Insertion - Frameshift
c.475+1G>A; p.?; 12:12718315-12718315	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.227G>A; p.W76*; 12:12718066-12718066	liver	carcinoma	Substitution - Nonsense
c.105delG; p.V36fs*6; 12:12717944-12717944	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.115G>C; p.E39Q; 12:12717954-12717954	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.156G>T; p.M52I; 12:12717995-12717995	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.237delG; p.E80fs*39; 12:12718076-12718076	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.193C>T; p.Q65*; 12:12718032-12718032	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.212_213insG; p.K73fs*52; 12:12718051-12718052	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.506G>A; p.R169K; 12:12718855-12718855	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.179G>A; p.W60*; 12:12718018-12718018	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.232G>A; p.E78K; 12:12718071-12718071	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.485C>T; p.T162I; 12:12718834-12718834	pancreas	carcinoma	Substitution - Missense
c.304delC; p.P102fs*17; 12:12718143-12718143	prostate	carcinoma	Deletion - Frameshift
c.216C>T; p.G72G; 12:12718055-12718055	prostate	carcinoma	Substitution - coding silent
c.455delG; p.K153fs*>46; 12:12718294-12718294	prostate	carcinoma	Deletion - Frameshift
c.505delA; p.R169fs*>30; 12:12718854-12718854	prostate	carcinoma	Deletion - Frameshift
c.137A>G; p.E46G; 12:12717976-12717976	prostate	carcinoma	Substitution - Missense
c.118G>T; p.E40*; 12:12717957-12717957	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.319C>T; p.Q107*; 12:12718158-12718158	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.211G>A; p.E71K; 12:12718050-12718050	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.104C>T; p.P35L; 12:12717943-12717943	skin	malignant_melanoma	Substitution - Missense
c.207C>T; p.P69P; 12:12718046-12718046	skin	malignant_melanoma	Substitution - coding silent
c.94C>T; p.L32F; 12:12717933-12717933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.124A>T; p.T42S; 12:12717963-12717963	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.326T>G; p.V109G; 12:12718165-12718165	thyroid	other; neoplasm	Substitution - Missense
c.407A>G; p.D136G; 12:12718246-12718246	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.511G>T; p.E171*; 12:12718860-12718860	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.335_357del23; p.S112fs*5; 12:12718174-12718196	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.550G>A; p.V184M; 12:12718899-12718899	urinary_tract; bladder	carcinoma	Substitution - Missense
c.20C>G; p.S7C; 12:12717859-12717859	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5C>T; p.S2L; 12:12717844-12717844	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5C>T; p.S2L; 12:12717844-12717844	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.487C>T; p.Q163*; 12:12718836-12718836	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.482C>G; p.S161C; 12:12718831-12718831	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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