Cancer metastasis database

Annotation category 5

Gene information

Gene ID 22914
Symbol

KLRK1

Synonymous

CD314|D12S2489E|KLR|NKG2-D|NKG2D

Full name

killer cell lectin-like receptor subfamily K, member 1

Gene description

NK cell receptor D|NKG2-D type II integral membrane protein|NKG2-D-activating NK receptor

Cytoband

12p13.2-p12.3

Gene type

protein-coding

Synonymous

MIM:611817; HGNC:HGNC:18788; Ensembl:ENSG00000213809; HPRD:17240; Vega:OTTHUMG00000168574

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.360G>A; p.W120*; 12:10378623-10378623

 skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.83G>A; p.S28N; 12:10386968-10386968

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.234C>T; p.F78F; 12:10379707-10379707

 skinmalignant_melanomaSubstitution - coding silent

c.496T>C; p.W166R; 12:10378169-10378169

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.220T>C; p.W74R; 12:10379721-10379721

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.95C>T; p.T32I; 12:10386956-10386956

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.491G>A; p.G164E; 12:10378174-10378174

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.H19Y; 12:10386996-10386996

 skinmalignant_melanomaSubstitution - Missense

c.374C>T; p.A125V; 12:10378609-10378609

 oesophaguscarcinomaSubstitution - Missense

c.164T>C; p.F55S; 12:10379777-10379777

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.13C>T; p.R5C; 12:10388798-10388798

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.452C>A; p.S151*; 12:10378213-10378213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.624G>A; p.T208T; 12:10373141-10373141

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.457C>T; p.H153Y; 12:10378208-10378208

 skinmalignant_melanomaSubstitution - Missense

c.535C>A; p.L179I; 12:10373230-10373230

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.381T>A; p.C127*; 12:10378602-10378602

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.462G>A; p.W154*; 12:10378203-10378203

 skinmalignant_melanomaSubstitution - Nonsense

c.373G>A; p.A125T; 12:10378610-10378610

 skinmalignant_melanomaSubstitution - Missense

c.28C>T; p.R10*; 12:10388783-10388783

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.578C>T; p.A193V; 12:10373187-10373187

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.501G>A; p.Q167Q; 12:10378164-10378164

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.253C>A; p.Q85K; 12:10379471-10379471

 livercarcinomaSubstitution - Missense

c.177C>T; p.I59I; 12:10379764-10379764

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.102G>A; p.W34*; 12:10386949-10386949

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.164delT; p.F55fs*7; 12:10379777-10379777

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.164delT; p.F55fs*7; 12:10379777-10379777

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.164delT; p.F55fs*7; 12:10379777-10379777

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.399C>T; p.S133S; 12:10378584-10378584

 skinmalignant_melanomaSubstitution - coding silent

c.530A>G; p.N177S; 12:10378135-10378135

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.222G>A; p.W74*; 12:10379719-10379719

 skinmalignant_melanomaSubstitution - Nonsense

c.462G>C; p.W154C; 12:10378203-10378203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.334C>A; p.Q112K; 12:10378649-10378649

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.268C>T; p.P90S; 12:10379456-10379456

 NSmalignant_melanomaSubstitution - Missense

c.88T>G; p.F30V; 12:10386963-10386963

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.201C>T; p.F67F; 12:10379740-10379740

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.41A>G; p.E14G; 12:10387010-10387010

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.191G>A; p.G64E; 12:10379750-10379750

 skinmalignant_melanomaSubstitution - Missense

c.534-1G>C; p.?; 12:10373232-10373232

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningUnknown

c.34A>G; p.S12G; 12:10388777-10388777

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.388C>G; p.Q130E; 12:10378595-10378595

 breastcarcinomaSubstitution - Missense

c.609T>C; p.C203C; 12:10373156-10373156

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.609T>C; p.C203C; 12:10373156-10373156

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.336A>T; p.Q112H; 12:10378647-10378647

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.97C>T; p.R33*; 12:10386954-10386954

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.348G>C; p.E116D; 12:10378635-10378635

 breastcarcinomaSubstitution - Missense

c.590A>C; p.K197T; 12:10373175-10373175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.214A>G; p.T72A; 12:10379727-10379727

 breastcarcinomaSubstitution - Missense

c.189G>A; p.M63I; 12:10379752-10379752

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.473T>A; p.V158E; 12:10378192-10378192

 large_intestine; coloncarcinomaSubstitution - Missense

c.487A>C; p.N163H; 12:10378178-10378178

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.70G>A; p.D24N; 12:10386981-10386981

 skinmalignant_melanomaSubstitution - Missense

c.1A>G; p.M1V; 12:10388810-10388810

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.117T>C; p.C39C; 12:10386934-10386934

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.127A>G; p.K43E; 12:10386924-10386924

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.253C>G; p.Q85E; 12:10379471-10379471

 ovarycarcinoma; serous_carcinomaSubstitution - Missense