KIF6 c.2155T>C ;(p.W719R)

Variant ID: 6-39325078-A-G

NM_145027.4(KIF6):c.2155T>C;(p.W719R)

This variant was identified in 111 publications

View GRCh38 version.




Publications:


Nonsize Criteria for Surgical Intervention on the Ascending Thoracic Aorta.

Aorta (Stamford, Conn.)
Elefteriades, John A JA; Ziganshin, Bulat A BA; Zafar, Mohammad A MA
Publication Date: 2023-05-12

Variant appearance in text: KIF6: Trp719Arg
PubMed Link: 37172942
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0043-1766114.pdf
View BVdb publication page



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: KIF6: W719R
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: rs20455
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: KIF6: W719R
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KIF6: 2155T>C; Trp719Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: KIF6: W719R; rs20455
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs20455
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: KIF6: 2155T>C; W719R; rs20455
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Pharmacogenes that demonstrate high association evidence according to CPIC, DPWG, and PharmGKB.

Frontiers In Medicine
Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Aziz, Mohammad A MA; Abohelaika, Salah S
Publication Date: 2022

Variant appearance in text: rs20455
PubMed Link: 36388934
Variant Present in the following documents:
  • Main text
  • fmed-09-1001876.pdf
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: KIF6: W719R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs20455
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



Genetic Variation among Pharmacogenes in the Sardinian Population.

International Journal Of Molecular Sciences
Idda, Maria Laura ML; Zoledziewska, Magdalena M; Urru, Silvana Anna Maria SAM; McInnes, Gregory G; Bilotta, Alice A; Nuvoli, Viola V; Lodde, Valeria V; Orrù, Sandro S; Schlessinger, David D; Cucca, Francesco F; Floris, Matteo M
Publication Date: 2022-09-02

Variant appearance in text: rs20455
PubMed Link: 36077453
Variant Present in the following documents:
  • ijms-23-10058.pdf
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: KIF6: W719R
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects.

Frontiers In Genetics
Kim, Serim S; Seo, Jong Do JD; Yun, Yeo-Min YM; Kim, Hanah H; Kim, Tae-Eun TE; Lee, Taeheon T; Lee, Tae-Rim TR; Lee, Jun Hyung JH; Cho, Eun-Hae EH; Ki, Chang-Seok CS
Publication Date: 2022

Variant appearance in text: rs20455
PubMed Link: 35664336
Variant Present in the following documents:
  • DataSheet1.pdf
View BVdb publication page



Pharmacogenetics of Dolutegravir Plasma Exposure Among Southern Africans With Human Immunodeficiency Virus.

The Journal Of Infectious Diseases
Cindi, Zinhle Z; Kawuma, Aida N AN; Maartens, Gary G; Bradford, Yuki Y; Venter, Francois F; Sokhela, Simiso S; Chandiwana, Nomathemba N; Wasmann, Roeland E RE; Denti, Paolo P; Wiesner, Lubbe L; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P
Publication Date: 2022-11-01

Variant appearance in text: rs20455
PubMed Link: 35512135
Variant Present in the following documents:
  • EMS145648-supplement-Supplementary_file.pdf
View BVdb publication page



The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population.

Evolutionary Bioinformatics Online
Khan, Abdul Rafay AR; Shah, Sayed Hajan SH; Ajaz, Sadia S; Firasat, Sadaf S; Abid, Aiysha A; Raza, Ali A
Publication Date: 2022

Variant appearance in text: rs20455
PubMed Link: 35497687
Variant Present in the following documents:
  • Main text
  • 10.1177_11769343221095834.pdf
View BVdb publication page



A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: KIF6: W719R
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Impact of 719Trp>Arg Polymorphism of KIF 6 Gene on Contrast Induced Nephropathy in Patients Undergoing Coronary Angiography or Percutaneous Coronary Intervention.

Global Heart
Barbieri, Lucia L; Verdoia, Monica M; Suryapranata, Harry H; Carugo, Stefano S; De Luca, Giuseppe G
Publication Date: 2022

Variant appearance in text: KIF6: Trp719Arg
PubMed Link: 35342690
Variant Present in the following documents:
  • gh-17-1-1105.pdf
View BVdb publication page



Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.

International Journal Of Environmental Research And Public Health
Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N
Publication Date: 2022-01-06

Variant appearance in text: rs20455
PubMed Link: 35055468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.

International Journal Of Environmental Research And Public Health
Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N
Publication Date: 2022-01-06

Variant appearance in text: rs20455
PubMed Link: 35055468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: KIF6: W719R; rs20455
PubMed Link: 35036865
Variant Present in the following documents:
  • Main text
  • mmc2.xlsx, sheet 1
  • main.pdf
View BVdb publication page



Association between rs20456 and rs6930913 of Kinesin-Like Family 6 and Hypertension in a Chinese Cohort.

International Journal Of Hypertension
Chen, Yan-Li YL; Zheng, Li-Qiang LQ; Li, Tie-Jun TJ; Sun, Zhao-Qing ZQ; Hao, Ying Y; Wu, Bao-Gang BG; Sun, Ying-Xian YX
Publication Date: 2021

Variant appearance in text: KIF6: Trp719Arg; rs20455
PubMed Link: 34961832
Variant Present in the following documents:
  • ijhy2021-1061800.pdf
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: KIF6: W719R
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Epicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk Marker.

Clinical Medicine Insights. Cardiology
Sousa, João Adriano JA; Mendonça, Maria Isabel MI; Serrão, Marco M; Borges, Sofia S; Henriques, Eva E; Freitas, Sónia S; Tentem, Margarida M; Santos, Marina M; Freitas, Pedro P; Ferreira, António A; Guerra, Graça G; Drumond, António A; Palma Reis, Roberto R
Publication Date: 2021

Variant appearance in text: rs20455
PubMed Link: 34276231
Variant Present in the following documents:
  • Main text
  • 10.1177_11795468211029244.pdf
View BVdb publication page



Genetic information improves the prediction of major adverse cardiovascular events in the GENEMACOR population.

Genetics And Molecular Biology
Mendonça, Maria Isabel MI; Henriques, Eva E; Borges, Sofia S; Sousa, Ana Célia AC; Pereira, Andreia A; Santos, Marina M; Temtem, Margarida M; Freitas, Sónia S; Monteiro, Joel J; Sousa, João Adriano JA; Rodrigues, Ricardo R; Guerra, Graça G; Reis, Roberto Palma Dos RPD
Publication Date: 2021

Variant appearance in text: rs20455
PubMed Link: 34137427
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-44-2-e20200448.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: KIF6: 2155T>C; W719R; rs20455
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: KIF6: Trp719Arg; rs20455
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: KIF6: 2155T>C; W719R; rs20455
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



MassARRAY multigene screening combined with LDL-C and sdLDL-C detection for more favorable outcomes in type 2 diabetes mellitus therapy.

Bmc Medical Genomics
Tian, Yong Y; Wang, Junhong J; Liu, Yanxiao Y; Luo, Xiangguang X; Yao, Ziying Z; Wang, Xinjun X; Zhang, Yuanyuan Y; Xu, Cheng C; Zhao, Xiaoyu X
Publication Date: 2021-03-17

Variant appearance in text: rs20455
PubMed Link: 33731122
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_937.pdf
View BVdb publication page



Population structure and pharmacogenomic risk stratification in the United States.

Bmc Biology
Nagar, Shashwat Deepali SD; Conley, Andrew B AB; Jordan, I King IK
Publication Date: 2020-10-13

Variant appearance in text: rs20455
PubMed Link: 33050895
Variant Present in the following documents:
  • Main text
  • 12915_2020_Article_875.pdf
View BVdb publication page



Personalised medicine in hypercholesterolaemia: the role of pharmacogenetics in statin therapy.

Annals Of Medicine
Ahangari, Najmeh N; Doosti, Mohammad M; Ghayour Mobarhan, Majid M; Sahebkar, Amirhossein A; Ferns, Gordon A GA; Pasdar, Alireza A
Publication Date: 2020-12

Variant appearance in text: rs20455
PubMed Link: 32735150
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: KIF6: 2155T>C; W719R; rs20455
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.

Plos One
Ahsan, Tamim T; Urmi, Nusrat Jahan NJ; Sajib, Abu Ashfaqur AA
Publication Date: 2020

Variant appearance in text: rs20455
PubMed Link: 31971968
Variant Present in the following documents:
  • Main text
  • pone.0228000.pdf
View BVdb publication page



Utility of genetic variants to predict prognosis in coronary artery disease patients receiving statin treatment.

International Journal Of Clinical And Experimental Pathology
Zhu, Li L; Ji, Xiaoli X; Jiang, Lin L; Zhu, Yabin Y; Xu, Yumin Y; Jiang, Qinxiao Q; Bao, Jingjing J; Ye, Jun J; Sheng, Haihui H; Yu, Hong H
Publication Date: 2017

Variant appearance in text: rs20455
PubMed Link: 31966745
Variant Present in the following documents:
  • Main text
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
Publication Date: 2019-10-11

Variant appearance in text: KIF6: W719R; rs20455
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
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: KIF6: W719R; rs20455
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_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: KIF6: W719R; rs20455
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs20455
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Additional value of a combined genetic risk score to standard cardiovascular stratification.

Genetics And Molecular Biology
Pereira, Andreia A; Mendonca, Maria Isabel MI; Borges, Sofia S; Sousa, Ana Célia AC; Freitas, Sónia S; Henriques, Eva E; Rodrigues, Mariana M; Freitas, Ana Isabel AI; Guerra, Graça G; Freitas, Carolina C; Pereira, Décio D; Brehm, António A; Reis, Roberto Palma Dos RPD
Publication Date: 2018

Variant appearance in text: rs20455
PubMed Link: 30571812
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-41-04-0173.pdf
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: KIF6: 2155T>C; Trp719Arg; rs20455
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment.

Plos One
Ruiz-Iruela, Cristina C; Padró-Miquel, Ariadna A; Pintó-Sala, Xavier X; Baena-Díez, Neus N; Caixàs-Pedragós, Assumpta A; Güell-Miró, Roser R; Navarro-Badal, Rosa R; Jusmet-Miguel, Xavier X; Calmarza, Pilar P; Puzo-Foncilla, José Luis JL; Alía-Ramos, Pedro P; Candás-Estébanez, Beatriz B
Publication Date: 2018

Variant appearance in text: KIF6: 2155T>C; Trp719Arg; rs20455
PubMed Link: 30304062
Variant Present in the following documents:
  • Main text
  • pone.0205430.pdf
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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: rs20455
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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Genetic Risk Analysis of Coronary Artery Disease in a Population-based Study in Portugal, Using a Genetic Risk Score of 31 Variants.

Arquivos Brasileiros De Cardiologia
Pereira, Andreia A; Mendonça, Maria Isabel MI; Borges, Sofia S; Freitas, Sónia S; Henriques, Eva E; Rodrigues, Mariana M; Freitas, Ana Isabel AI; Sousa, Ana Célia AC; Brehm, António A; Reis, Roberto Palma Dos RPD
Publication Date: 2018-07

Variant appearance in text: rs20455
PubMed Link: 29972410
Variant Present in the following documents:
  • Main text
  • abc-111-01-0050.pdf
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Disease burden and the role of pharmacogenomics in African populations.

Global Health, Epidemiology And Genomics
Mpye, K L KL; Matimba, A A; Dzobo, K K; Chirikure, S S; Wonkam, A A; Dandara, C C
Publication Date: 2017

Variant appearance in text: rs20455
PubMed Link: 29868213
Variant Present in the following documents:
  • Main text
  • S205442001600021Xa.pdf
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Interdisciplinary Models for Research and Clinical Endeavors in Genomic Medicine: A Scientific Statement From the American Heart Association.

Circulation. Genomic And Precision Medicine
Musunuru, Kiran K; Arora, Pankaj P; Cooke, John P JP; Ferguson, Jane F JF; Hershberger, Ray E RE; Hickey, Kathleen T KT; Lee, Jin-Moo JM; Lima, João A C JAC; Loscalzo, Joseph J; Pereira, Naveen L NL; Russell, Mark W MW; Shah, Svati H SH; Sheikh, Farah F; Wang, Thomas J TJ; MacRae, Calum A CA; ,
Publication Date: 2018-06

Variant appearance in text: KIF6: Trp719Arg
PubMed Link: 29844141
Variant Present in the following documents:
  • Main text
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Genome-wide association study and meta-analysis identify loci associated with ventricular and supraventricular ectopy.

Scientific Reports
Napier, Melanie D MD; Franceschini, Nora N; Gondalia, Rahul R; Stewart, James D JD; Méndez-Giráldez, Raúl R; Sitlani, Colleen M CM; Seyerle, Amanda A AA; Highland, Heather M HM; Li, Yun Y; Wilhelmsen, Kirk C KC; Yan, Song S; Duan, Qing Q; Roach, Jeffrey J; Yao, Jie J; Guo, Xiuqing X; Taylor, Kent D KD; Heckbert, Susan R SR; Rotter, Jerome I JI; North, Kari E KE; Reiner, Alexander P AP; Zhang, Zhu-Ming ZM; Tinker, Lesley F LF; Liao, Duanping D; Laurie, Cathy C CC; Gogarten, Stephanie M SM; Lin, Henry J HJ; Brody, Jennifer A JA; Bartz, Traci M TM; Psaty, Bruce M BM; Sotoodehnia, Nona N; Soliman, Elsayed Z EZ; Avery, Christy L CL; Whitsel, Eric A EA
Publication Date: 2018-04-04

Variant appearance in text: KIF6: Trp719Arg; rs20455
PubMed Link: 29618737
Variant Present in the following documents:
  • 41598_2018_23843_MOESM1_ESM.pdf
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Association between KIF6 rs20455 polymorphism and the risk of coronary heart disease (CHD): a pooled analysis of 50 individual studies including 40,059 cases and 64,032 controls.

Lipids In Health And Disease
Li, Yan Y; Chen, Zhen Z; Song, Hejian H
Publication Date: 2018-01-05

Variant appearance in text: KIF6: Trp719Arg; rs20455
PubMed Link: 29304815
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_651.pdf
View BVdb publication page