ANKK1 c.715G>A ;(p.A239T)

Variant ID: 11-113266821-G-A

NM_178510.1(ANKK1):c.715G>A;(p.A239T)

This variant was identified in 55 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ANKK1: A239T
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs7118900
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
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: rs7118900
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacogenomic Profile of Amazonian Amerindians.

Journal Of Personalized Medicine
Rodrigues, Juliana Carla Gomes JCG; Fernandes, Marianne Rodrigues MR; Ribeiro-Dos-Santos, André Maurício AM; de Araújo, Gilderlanio Santana GS; de Souza, Sandro José SJ; Guerreiro, João Farias JF; Ribeiro-Dos-Santos, Ândrea Â; de Assumpção, Paulo Pimentel PP; Santos, Ney Pereira Carneiro Dos NPCD; Santos, Sidney S
Publication Date: 2022-06-10

Variant appearance in text: rs7118900
PubMed Link: 35743738
Variant Present in the following documents:
  • jpm-12-00952.pdf
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: ANKK1: 715G>A; Ala239Thr
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: ANKK1: A239T
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



DRD1 and DRD2 Receptor Polymorphisms: Genetic Neuromodulation of the Dopaminergic System as a Risk Factor for ASD, ADHD and ASD/ADHD Overlap.

Frontiers In Neuroscience
Mariggiò, Maria Addolorata MA; Palumbi, Roberto R; Vinella, Angela A; Laterza, Riccardo R; Petruzzelli, Maria Giuseppina MG; Peschechera, Antonia A; Gabellone, Alessandra A; Gentile, Ottavio O; Vincenti, Alessandra A; Margari, Lucia L
Publication Date: 2021

Variant appearance in text: rs7118900
PubMed Link: 34658761
Variant Present in the following documents:
  • Main text
  • fnins-15-705890.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ANKK1: 715G>A; A239T; rs7118900
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A Systematic Review of Genetic Polymorphisms Associated with Binge Eating Disorder.

Nutrients
Manfredi, Lucia L; Accoto, Alessandra A; Couyoumdjian, Alessandro A; Conversi, David D
Publication Date: 2021-03-05

Variant appearance in text: rs7118900
PubMed Link: 33807560
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics of methadone: a narrative review of the literature.

Pharmacogenomics
Packiasabapathy, Senthil S; Aruldhas, Blessed W BW; Horn, Nicole N; Overholser, Brian R BR; Quinney, Sara K SK; Renschler, Janelle S JS; Sadhasivam, Senthilkumar S
Publication Date: 2020-08

Variant appearance in text: rs7118900
PubMed Link: 32705966
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Ankyrin Repeat and Kinase Domain Containing 1 Gene, and Addiction Vulnerability.

International Journal Of Molecular Sciences
Koeneke, Alejandra A; Ponce, Guillermo G; Troya-Balseca, Johanna J; Palomo, Tomás T; Hoenicka, Janet J
Publication Date: 2020-04-04

Variant appearance in text: ANKK1: A239T
PubMed Link: 32260442
Variant Present in the following documents:
  • Main text
  • ijms-21-02516.pdf
View BVdb publication page



Genetic variation in dopamine neurotransmission and motor development of infants born extremely-low-birthweight.

Developmental Medicine And Child Neurology
Worley, Gordon G; Erickson, Stephen W SW; Gustafson, Kathryn E KE; Nikolova, Yuliya S YS; Ashley-Koch, Allison E AE; Belsky, Daniel W DW; Goldstein, Ricki F RF; Page, Grier P GP; Cotten, C Michael CM; ,
Publication Date: 2020-06

Variant appearance in text: rs7118900
PubMed Link: 31691959
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Imaging of Opioid and Dopamine Systems: Insights Into the Pharmacogenetics of Opioid Use Disorders.

Frontiers In Psychiatry
Burns, Jamie A JA; Kroll, Danielle S DS; Feldman, Dana E DE; Kure Liu, Christopher C; Manza, Peter P; Wiers, Corinde E CE; Volkow, Nora D ND; Wang, Gene-Jack GJ
Publication Date: 2019

Variant appearance in text: rs7118900
PubMed Link: 31620026
Variant Present in the following documents:
  • Main text
  • fpsyt-10-00626.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ANKK1: 715G>A; Ala239Thr; rs7118900
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs7118900
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A neurobiological pathway to smoking in adolescence: TTC12-ANKK1-DRD2 variants and reward response.

European Neuropsychopharmacology : The Journal Of The European College Of Neuropsychopharmacology
Macare, Christine C; Ducci, Francesca F; Zhang, Yuning Y; Ruggeri, Barbara B; Jia, Tianye T; Kaakinen, Marika M; Kalsi, Gursharan G; Charoen, Pimphen P; Casoni, Filippo F; Peters, Jan J; Bromberg, Uli U; Hill, Matthew M; Buxton, Jessica J; Blakemore, Alexandra A; Veijola, Juha J; Büchel, Christian C; Banaschewski, Tobias T; Bokde, Arun L W ALW; Conrod, Patricia P; Flor, Herta H; Frouin, Vincent V; Gallinat, Jürgen J; Garavan, Hugh H; Gowland, Penny A PA; Heinz, Andreas A; Ittermann, Bernd B; Lathrop, Mark M; Martinot, Jean-Luc JL; Paus, Tomáš T; Desrivières, Sylvane S; Munafò, Marcus M; Järvelin, Marjo-Riitta MR; Schumann, Gunter G; ,
Publication Date: 2018-10

Variant appearance in text: ANKK1: Ala239Thr; rs7118900
PubMed Link: 30104163
Variant Present in the following documents:
  • Main text
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: ANKK1: 715G>A; A239T; rs7118900
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 7
View BVdb publication page



Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort.

Acta Medica Lituanica
Baronas, Karolis K; Rančelis, Tautvydas T; Pranculis, Aidas A; Domarkienė, Ingrida I; Ambrozaitytė, Laima L; Kučinskas, Vaidutis V
Publication Date: 2018

Variant appearance in text: ANKK1: 715G>A; rs7118900
PubMed Link: 29928152
Variant Present in the following documents:
  • Main text
  • aml-25-007.pdf
View BVdb publication page



ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.

Plos One
Rubio-Solsona, Estrella E; Martí, Salvador S; Vílchez, Juan J JJ; Palau, Francesc F; Hoenicka, Janet J
Publication Date: 2018

Variant appearance in text: ANKK1: Ala239Thr
PubMed Link: 29758057
Variant Present in the following documents:
  • pone.0197254.pdf
View BVdb publication page



Influence of maternal and own genotype at tanning dependence-related SNPs on sun exposure in childhood.

Bmc Medical Genetics
Khouja, Jasmine J; Lewis, Sarah J SJ; Bonilla, Carolina C
Publication Date: 2018-04-12

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 29649967
Variant Present in the following documents:
  • Main text
  • 12881_2018_575_MOESM2_ESM.xlsx, sheet 8
  • 12881_2018_Article_575.pdf
View BVdb publication page



Pharmacogenetics of Opioid Use Disorder Treatment.

Cns Drugs
Crist, Richard C RC; Clarke, Toni-Kim TK; Berrettini, Wade H WH
Publication Date: 2018-04

Variant appearance in text: rs7118900
PubMed Link: 29623639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research
Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP
Publication Date: 2018-04

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 29567674
Variant Present in the following documents:
  • supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs7118900
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Prediction of striatal D2 receptor binding by DRD2/ANKK1 TaqIA allele status.

Synapse (New York, N.Y.)
Eisenstein, Sarah A SA; Bogdan, Ryan R; Love-Gregory, Latisha L; Corral-Frías, Nadia S NS; Koller, Jonathan M JM; Black, Kevin J KJ; Moerlein, Stephen M SM; Perlmutter, Joel S JS; Barch, Deanna M DM; Hershey, Tamara T
Publication Date: 2016-10

Variant appearance in text: rs7118900
PubMed Link: 27241797
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetic Associations of Antipsychotic Drug-Related Weight Gain: A Systematic Review and Meta-analysis.

Schizophrenia Bulletin
Zhang, Jian-Ping JP; Lencz, Todd T; Zhang, Ryan X RX; Nitta, Masahiro M; Maayan, Lawrence L; John, Majnu M; Robinson, Delbert G DG; Fleischhacker, W Wolfgang WW; Kahn, Rene S RS; Ophoff, Roel A RA; Kane, John M JM; Malhotra, Anil K AK; Correll, Christoph U CU
Publication Date: 2016-11

Variant appearance in text: rs7118900
PubMed Link: 27217270
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation and dopamine D2 receptor availability: a systematic review and meta-analysis of human in vivo molecular imaging studies.

Translational Psychiatry
Gluskin, B S BS; Mickey, B J BJ
Publication Date: 2016-03-01

Variant appearance in text: ANKK1: Ala239Thr; rs7118900
PubMed Link: 26926883
Variant Present in the following documents:
  • Main text
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: rs7118900
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



The significant association of Taq1A genotypes in DRD2/ANKK1 with smoking cessation in a large-scale meta-analysis of Caucasian populations.

Translational Psychiatry
Ma, Y Y; Wang, M M; Yuan, W W; Su, K K; Li, M D MD
Publication Date: 2015-12-01

Variant appearance in text: ANKK1: Ala239Thr
PubMed Link: 26624925
Variant Present in the following documents:
  • tp2015176a.pdf
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: ANKK1: A239T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Addiction pharmacogenetics: a systematic review of the genetic variation of the dopaminergic system.

Psychiatric Genetics
Patriquin, Michelle A MA; Bauer, Isabelle E IE; Soares, Jair C JC; Graham, David P DP; Nielsen, David A DA
Publication Date: 2015-10

Variant appearance in text: ANKK1: Ala239Thr; rs7118900
PubMed Link: 26146874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Overlapping dopaminergic pathway genetic susceptibility to heroin and cocaine addictions in African Americans.

Annals Of Human Genetics
Levran, Orna O; Randesi, Matthew M; da Rosa, Joel Correa JC; Ott, Jurg J; Rotrosen, John J; Adelson, Miriam M; Kreek, Mary Jeanne MJ
Publication Date: 2015-05

Variant appearance in text: ANKK1: Ala239Thr; rs7118900
PubMed Link: 25875614
Variant Present in the following documents:
  • Main text
View BVdb publication page



The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains.

Genes, Brain, And Behavior
Eicher, J D JD; Stein, C M CM; Deng, F F; Ciesla, A A AA; Powers, N R NR; Boada, R R; Smith, S D SD; Pennington, B F BF; Iyengar, S K SK; Lewis, B A BA; Gruen, J R JR
Publication Date: 2015-04

Variant appearance in text: rs7118900
PubMed Link: 25778907
Variant Present in the following documents:
  • Main text
  • GBB-14-377.pdf
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s2.xls, sheet 1
View BVdb publication page



Dopaminergic pathway polymorphisms and heroin addiction: further support for association of CSNK1E variants.

Pharmacogenomics
Levran, Orna O; Peles, Einat E; Randesi, Matthew M; Correa da Rosa, Joel J; Ott, Jurg J; Rotrosen, John J; Adelson, Miriam M; Kreek, Mary Jeanne MJ
Publication Date: 2014-12

Variant appearance in text: rs7118900
PubMed Link: 25521358
Variant Present in the following documents:
  • Main text
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: ANKK1: A239T; rs7118900
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: ANKK1: A239T
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s001.xls, sheet 3
  • pone.0109576.s002.xls, sheet 3
View BVdb publication page



Novel gene identified in an exome-wide association study of tanning dependence.

Experimental Dermatology
Cartmel, Brenda B; Dewan, Andrew A; Ferrucci, Leah M LM; Gelernter, Joel J; Stapleton, Jerod J; Leffell, David J DJ; Mayne, Susan T ST; Bale, Allen E AE
Publication Date: 2014-10

Variant appearance in text: ANKK1: Ala239Thr; rs7118900
PubMed Link: 25041255
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs7118900
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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Motivational salience and genetic variability of dopamine D2 receptor expression interact in the modulation of interference processing.

Frontiers In Human Neuroscience
Richter, Anni A; Richter, Sylvia S; Barman, Adriana A; Soch, Joram J; Klein, Marieke M; Assmann, Anne A; Libeau, Catherine C; Behnisch, Gusalija G; Wüstenberg, Torsten T; Seidenbecher, Constanze I CI; Schott, Björn H BH
Publication Date: 2013

Variant appearance in text: ANKK1: Ala239Thr
PubMed Link: 23760450
Variant Present in the following documents:
  • Main text
  • fnhum-07-00250.pdf
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Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language.

Plos One
Eicher, John D JD; Powers, Natalie R NR; Cho, Kelly K; Miller, Laura L LL; Mueller, Kathryn L KL; Ring, Susan M SM; Tomblin, J Bruce JB; Gruen, Jeffrey R JR
Publication Date: 2013

Variant appearance in text: rs7118900
PubMed Link: 23691092
Variant Present in the following documents:
  • Main text
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Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction.

Pharmacogenomics
Levran, Orna O; Peles, Einat E; Randesi, Matthew M; Shu, Xu X; Ott, Jurg J; Shen, Pei-Hong PH; Adelson, Miriam M; Kreek, Mary Jeanne MJ
Publication Date: 2013-05

Variant appearance in text: ANKK1: Ala239Thr; rs7118900
PubMed Link: 23651024
Variant Present in the following documents:
  • Main text
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Differential susceptibility to prevention: GABAergic, dopaminergic, and multilocus effects.

Journal Of Child Psychology And Psychiatry, And Allied Disciplines
Brody, Gene H GH; Chen, Yi-fu YF; Beach, Steven R H SR
Publication Date: 2013-08

Variant appearance in text: rs7118900
PubMed Link: 23294086
Variant Present in the following documents:
  • Main text
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Meta-analysis of genetic association studies under heterogeneity.

European Journal Of Human Genetics : Ejhg
Neupane, Binod B; Loeb, Mark M; Anand, Sonia S SS; Beyene, Joseph J
Publication Date: 2012-11

Variant appearance in text: rs7118900
PubMed Link: 22643179
Variant Present in the following documents:
  • Main text
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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal
Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV
Publication Date: 2012-12

Variant appearance in text: ANKK1: A239T; rs7118900
PubMed Link: 21808284
Variant Present in the following documents:
  • NIHMS305090-supplement-3.pdf
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Psychopathological aspects of dopaminergic gene polymorphisms in adolescence and young adulthood.

Neuroscience And Biobehavioral Reviews
Nemoda, Zsofia Z; Szekely, Anna A; Sasvari-Szekely, Maria M
Publication Date: 2011-08

Variant appearance in text: ANKK1: Ala239Thr; rs7118900
PubMed Link: 21527290
Variant Present in the following documents:
  • Main text
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TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood.

Biological Psychiatry
Ducci, Francesca F; Kaakinen, Marika M; Pouta, Anneli A; Hartikainen, Anna-Liisa AL; Veijola, Juha J; Isohanni, Matti M; Charoen, Pimphen P; Coin, Lachlan L; Hoggart, Clive C; Ekelund, Jesper J; Peltonen, Leena L; Freimer, Nelson N; Elliott, Paul P; Schumann, Gunter G; Järvelin, Marjo-Riitta MR
Publication Date: 2011-04-01

Variant appearance in text: rs7118900
PubMed Link: 21168125
Variant Present in the following documents:
  • Main text
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