KISS1 c.107A>G ;(p.Q36R)

Variant ID: 1-204159922-T-C

NM_002256.3(KISS1):c.107A>G;(p.Q36R)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs35431622
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: KISS1: Q36R; rs35431622
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease Model

Journal Of Clinical Research In Pediatric Endocrinology
Kotan, Leman Damla LD
Publication Date: 2022-08-25

Variant appearance in text: rs35431622
PubMed Link: 35438269
Variant Present in the following documents:
  • JCRPE-14-293.pdf
View BVdb publication page



Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree.

Molecular Genetics & Genomic Medicine
Meng, Peiqi P; Zhao, Huaxiang H; Huang, Wenbin W; Zhang, Yunfan Y; Zhong, Wenjie W; Zhang, Mengqi M; Jia, Peizeng P; Zhou, Zhibo Z; Maimaitili, Gulibaha G; Chen, Feng F; Zhang, Jieni J; Lin, Jiuxiang J
Publication Date: 2019-09

Variant appearance in text: KISS1: 107A>G; Gln36Arg
PubMed Link: 31386309
Variant Present in the following documents:
  • MGG3-7-e714-s001.pdf
View BVdb publication page



Computational study of putative functional variants in human kisspeptin.

Journal, Genetic Engineering & Biotechnology
Samadian, Esmaeil E; Gharaei, Roghaye R; Hosseinzadeh Colagar, Abasalt A; Sohrabi, Hoda H
Publication Date: 2017-12

Variant appearance in text: KISS1: Q36R; rs35431622
PubMed Link: 30647681
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26

Variant appearance in text: KISS1: Q36R; rs35431622
PubMed Link: 27456059
Variant Present in the following documents:
  • srep30457-s2.xls, sheet 1
  • srep30457-s2.xls, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs35431622
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KISS1: Q36R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Polymorphisms rs12998 and rs5780218 in KiSS1 suppressor metastasis gene in Mexican patients with breast cancer.

Disease Markers
Quevedo, Edhit Guadalupe Cruz EG; Aguilar, Gabriela Monserrat Mimendi GM; Aguilar, Luis Anselmo Juárez LA; Rubio, Susan Andrea Gutierrez SA; Martínez, Silvia Esperanza Flores SE; Rodríguez, Ingrid Patricia Dávalos IP; Corona, José Sánchez JS; Morán, Martha Isabel Torres MI; Gómez, Roberto Carlos Rosales RC; Moguel, María Cristina Morán MC
Publication Date: 2015

Variant appearance in text: KISS1: Q36R
PubMed Link: 25810563
Variant Present in the following documents:
  • DM2015-365845.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: KISS1: Q36R; rs35431622
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: KISS1: Q36R; rs35431622
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



The generation and utilization of a cancer-oriented representation of the human transcriptome by using expressed sequence tags.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Brentani, Helena H; Caballero, Otávia L OL; Camargo, Anamaria A AA; da Silva, Aline M AM; da Silva, Wilson Araújo WA; Dias Neto, Emmanuel E; Grivet, Marco M; Gruber, Arthur A; Guimaraes, Pedro Edson Moreira PE; Hide, Winston W; Iseli, Christian C; Jongeneel, C Victor CV; Kelso, Janet J; Nagai, Maria Aparecida MA; Ojopi, Elida Paula Benquique EP; Osorio, Elisson C EC; Reis, Eduardo M R EM; Riggins, Gregory J GJ; Simpson, Andrew John George AJ; de Souza, Sandro S; Stevenson, Brian J BJ; Strausberg, Robert L RL; Tajara, Eloiza H EH; Verjovski-Almeida, Sergio S; Acencio, Marcio Luis ML; Bengtson, Mário Henrique MH; Bettoni, Fabiana F; Bodmer, Walter F WF; Briones, Marcelo R S MR; Camargo, Luiz Paulo LP; Cavenee, Webster W; Cerutti, Janete M JM; Coelho Andrade, Luis Eduardo LE; Costa dos Santos, Paulo César PC; Ramos Costa, Maria Cristina MC; da Silva, Israel Tojal IT; Estécio, Marcos Roberto H MR; Sa Ferreira, Karine K; Furnari, Frank B FB; Faria, Milton M; Galante, Pedro A F PA; Guimaraes, Gustavo S GS; Holanda, Adriano Jesus AJ; Kimura, Edna Teruko ET; Leerkes, Maarten R MR; Lu, Xin X; Maciel, Rui M B RM; Martins, Elizabeth A L EA; Massirer, Katlin Brauer KB; Melo, Analy S A AS; Mestriner, Carlos Alberto CA; Miracca, Elisabete Cristina EC; Miranda, Leandro Lorenco LL; Nobrega, Francisco G FG; Oliveira, Paulo S PS; Paquola, Apua C M AC; Pandolfi, José Rodrigo C JR; Campos Pardini, Maria Ines de Moura MI; Passetti, Fabio F; Quackenbush, John J; Schnabel, Beatriz B; Sogayar, Mari Cleide MC; Souza, Jorge E JE; Valentini, Sandro R SR; Zaiats, Andre C AC; Amaral, Elisabete Jorge EJ; Arnaldi, Liliane A T LA; de Araújo, Amelia Goes AG; de Bessa, Simone Aparecida SA; Bicknell, David C DC; Ribeiro de Camaro, Maria Eugenia ME; Carraro, Dirce Maria DM; Carrer, Helaine H; Carvalho, Alex F AF; Colin, Christian C; Costa, Fernando F; Curcio, Cyntia C; Guerreiro da Silva, Ismael Dale Cotrim ID; Pereira da Silva, Neusa N; Dellamano, Márcia M; El-Dorry, Hamza H; Espreafico, Enilza Maria EM; Scattone Ferreira, Ari José AJ; Ayres Ferreira, Cristiane C; Fortes, Maria Angela H Z MA; Gama, Angelita Habr AH; Giannella-Neto, Daniel D; Giannella, Maria Lúcia C C ML; Giorgi, Ricardo R RR; Goldman, Gustavo Henrique GH; Goldman, Maria Helena S MH; Hackel, Christine C; Ho, Paulo Lee PL; Kimura, Elza Myiuki EM; Kowalski, Luiz Paulo LP; Krieger, Jose E JE; Leite, Luciana C C LC; Lopes, Ademar A; Luna, Ana Mercedes S C AM; Mackay, Alan A; Mari, Suely Kazue Nagahashi SK; Marques, Adriana Aparecida AA; Martins, Waleska K WK; Montagnini, André A; Mourão Neto, Mario M; Nascimento, Ana Lucia T O AL; Neville, A Munro AM; Nobrega, Marina P MP; O'Hare, Mike J MJ; Otsuka, Audrey Yumi AY; Ruas de Melo, Anna Izabel AI; Paco-Larson, Maria Luisa ML; Guimarães Pereira, Gonçalo G; Pereira da Silva, Neusa N; Pesquero, Joao Bosco JB; Pessoa, Juliana Gilbert JG; Rahal, Paula P; Rainho, Claudia Aparecida CA; Rodrigues, Vanderlei V; Rogatto, Silvia Regina SR; Romano, Camila Malta CM; Romeiro, Janaina Gusmao JG; Rossi, Benedito Mauro BM; Rusticci, Monica M; Guerra de Sá, Renata R; Sant' Anna, Simone Cristina SC; Sarmazo, Miriam L ML; Silva, Teresa Cristina de Lima E TC; Soares, Fernando Augusto FA; Sonati, Maria de Fátima Mde F; de Freitas Sousa, Josane J; Queiroz, Diana D; Valente, Valéria V; Vettore, André Luiz AL; Villanova, Fabiola Elizabeth FE; Zago, Marco Antonio MA; Zalcberg, Heloisa H; , ; ,
Publication Date: 2003-11-11

Variant appearance in text: KISS1: Q36R
PubMed Link: 14593198
Variant Present in the following documents:
  • Main text
View BVdb publication page