| Gene ID | 4751 |
| Symbol | NEK2 |
| Synonymous | HsPK21|NEK2A|NLK1|PPP1R111|RP67 |
| Full name | NIMA-related kinase 2 |
| Gene description | NIMA (never in mitosis gene a)-related kinase 2|nimA-like protein kinase 1|nimA-related protein kinase 2|protein phosphatase 1, regulatory subunit 111|serine/threonine-protein kinase Nek2 |
| Cytoband | 1q32.3 |
| Gene type | protein-coding |
| Synonymous | MIM:604043; HGNC:HGNC:7745; Ensembl:ENSG00000117650; HPRD:04953; Vega:OTTHUMG00000037121 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.388C>G; p.R130G; 1:211673650-211673650 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463G>A; p.V155I; 1:211673575-211673575 |
breast | carcinoma | Substitution - Missense |
c.985+4A>G; p.?; 1:211669109-211669109 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.862C>A; p.R288R; 1:211669236-211669236 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.394G>A; p.D132N; 1:211673644-211673644 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1018C>A; p.L340I; 1:211667199-211667199 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1018C>A; p.L340I; 1:211667199-211667199 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1018C>A; p.L340I; 1:211667199-211667199 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1111G>T; p.E371*; 1:211667106-211667106 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.228C>A; p.D76E; 1:211674382-211674382 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.201C>T; p.I67I; 1:211674409-211674409 |
breast | carcinoma | Substitution - coding silent |
c.219G>A; p.R73R; 1:211674391-211674391 |
skin | malignant_melanoma | Substitution - coding silent |
c.746C>T; p.T249M; 1:211670300-211670300 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.715C>G; p.R239G; 1:211670331-211670331 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.368C>T; p.A123V; 1:211673670-211673670 |
skin | malignant_melanoma | Substitution - Missense |
c.831C>A; p.D277E; 1:211669267-211669267 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.985C>T; p.Q329*; 1:211669113-211669113 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.153G>T; p.M51I; 1:211674457-211674457 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1163G>A; p.G388E; 1:211663601-211663601 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.985C>T; p.Q329*; 1:211669113-211669113 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.97-2A>G; p.?; 1:211674515-211674515 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Unknown |
c.801G>T; p.E267D; 1:211669297-211669297 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.392G>A; p.S131N; 1:211673646-211673646 |
skin | malignant_melanoma | Substitution - Missense |
c.1327G>T; p.G443C; 1:211663437-211663437 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.798T>G; p.L266L; 1:211669300-211669300 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.896C>T; p.S299F; 1:211669202-211669202 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.401G>A; p.G134D; 1:211673637-211673637 |
stomach | carcinoma | Substitution - Missense |
c.31T>C; p.L11L; 1:211675449-211675449 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.839G>A; p.R280K; 1:211669259-211669259 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.970G>T; p.E324*; 1:211669128-211669128 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.784G>A; p.V262I; 1:211669314-211669314 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.784G>A; p.V262I; 1:211669314-211669314 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.784G>A; p.V262I; 1:211669314-211669314 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.711A>G; p.P237P; 1:211670335-211670335 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.314+2T>C; p.?; 1:211674294-211674294 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.832G>A; p.E278K; 1:211669266-211669266 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.709C>T; p.P237S; 1:211670337-211670337 |
skin | malignant_melanoma | Substitution - Missense |
c.985+1G>A; p.?; 1:211669112-211669112 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.709C>T; p.P237S; 1:211670337-211670337 |
skin | malignant_melanoma | Substitution - Missense |
c.312A>C; p.E104D; 1:211674298-211674298 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.418C>T; p.R140W; 1:211673620-211673620 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.862C>T; p.R288*; 1:211669236-211669236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.409G>A; p.V137I; 1:211673629-211673629 |
liver | carcinoma | Substitution - Missense |
c.409G>A; p.V137I; 1:211673629-211673629 |
liver | carcinoma | Substitution - Missense |
c.771C>T; p.Y257Y; 1:211669327-211669327 |
skin | malignant_melanoma | Substitution - coding silent |
c.344G>A; p.R115Q; 1:211673694-211673694 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.667G>A; p.E223K; 1:211670379-211670379 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.344G>A; p.R115Q; 1:211673694-211673694 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.887C>T; p.S296L; 1:211669211-211669211 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.887C>T; p.S296L; 1:211669211-211669211 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.887C>T; p.S296L; 1:211669211-211669211 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.887C>T; p.S296L; 1:211669211-211669211 |
skin | malignant_melanoma | Substitution - Missense |
c.35A>G; p.Y12C; 1:211675445-211675445 |
breast | carcinoma | Substitution - Missense |
c.504T>C; p.H168H; 1:211673534-211673534 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |