| Gene ID | 84634 |
| Symbol | KISS1R |
| Synonymous | AXOR12|CPPB1|GPR54|HH8|HOT7T175|KISS-1R |
| Full name | KISS1 receptor |
| Gene description | G protein-coupled receptor 54|G-protein coupled receptor OT7T175|hypogonadotropin-1|kiSS-1 receptor|kisspeptins receptor|metastin receptor |
| Cytoband | 19p13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:604161; HGNC:HGNC:4510; Ensembl:ENSG00000116014; HPRD:09167; Vega:OTTHUMG00000181900 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.801C>T; p.A267A; 19:920352-920352 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.175G>A; p.G59R; 19:917677-917677 |
skin | malignant_melanoma | Substitution - Missense |
c.874G>C; p.G292R; 19:920425-920425 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.239A>G; p.Y80C; 19:917741-917741 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.144C>T; p.F48F; 19:917646-917646 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
thyroid | other; neoplasm | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
thyroid | other; neoplasm | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
thyroid | other; neoplasm | Substitution - Missense |
c.1091T>A; p.L364H; 19:920642-920642 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1027_1035delCGCCGCCCC; p.R349_P351delRRP; 19:920578-920586 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - In frame |
c.176G>A; p.G59E; 19:917678-917678 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.309C>T; p.Y103Y; 19:918608-918608 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.953T>C; p.L318P; 19:920504-920504 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.729C>T; p.S243S; 19:920097-920097 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.954G>A; p.L318L; 19:920505-920505 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.552_553insC; p.G186fs*8; 19:919920-919921 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.294C>T; p.F98F; 19:918593-918593 |
breast | carcinoma | Substitution - coding silent |
c.951G>A; p.A317A; 19:920502-920502 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.226G>A; p.V76M; 19:917728-917728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1013_1014insC; p.C340fs*>60; 19:920564-920565 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.308A>T; p.Y103F; 19:918607-918607 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1123G>T; p.A375S; 19:920674-920674 |
pancreas | carcinoma | Substitution - Missense |
c.785C>T; p.S262L; 19:920336-920336 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.262G>T; p.D88Y; 19:918561-918561 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.114G>A; p.R38R; 19:917616-917616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.282C>T; p.C94C; 19:918581-918581 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.274C>T; p.L92F; 19:918573-918573 |
kidney | other; neoplasm | Substitution - Missense |
c.310C>T; p.P104S; 19:918609-918609 |
pancreas | NS | Substitution - Missense |
c.935_936CC>TT; p.S312F; 19:920486-920487 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.649C>T; p.L217L; 19:920017-920017 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.649C>T; p.L217L; 19:920017-920017 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1061C>G; p.S354W; 19:920612-920612 |
parathyroid | carcinoma | Substitution - Missense |
c.863T>C; p.L288P; 19:920414-920414 |
pancreas | carcinoma | Substitution - Missense |
c.1042C>T; p.P348S; 19:920593-920593 |
thyroid | other; neoplasm | Substitution - Missense |