ILF3 c.2055G>T ;(p.S685=)

Variant ID: 19-10794630-G-T

NM_017620.2(ILF3):c.2055G>T;(p.S685=)

This variant was identified in 29 publications

View GRCh38 version.




Publications:


Evolutionary route of nasopharyngeal carcinoma metastasis and its clinical significance.

Nature Communications
Lin, Mei M; Zhang, Xiao-Long XL; You, Rui R; Liu, You-Ping YP; Cai, Hong-Min HM; Liu, Li-Zhi LZ; Liu, Xue-Fei XF; Zou, Xiong X; Xie, Yu-Long YL; Zou, Ru-Hai RH; Zhang, Yi-Nuan YN; Sun, Rui R; Feng, Wei-Yi WY; Wang, Hai-Yan HY; Tao, Gui-Hua GH; Li, Hao-Jiang HJ; Huang, Wen-Jie WJ; Zhang, Chao C; Huang, Pei-Yu PY; Wang, Jin J; Zhao, Qi Q; Yang, Qi Q; Zhang, Hong-Wan HW; Liu, Ting T; Li, Hui-Feng HF; Jiang, Xiao-Bing XB; Tang, Jun J; Gu, Yang-Kui YK; Yu, Tao T; Wang, Zhi-Qiang ZQ; Feng, Lin L; Kang, Tie-Bang TB; Zuo, Zhi-Xiang ZX; Chen, Ming-Yuan MY
Publication Date: 2023-02-04

Variant appearance in text: ILF3: 2055G>T; S685S
PubMed Link: 36739462
Variant Present in the following documents:
  • 41467_2023_35995_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: N/A
PubMed Link: 36269797
Variant Present in the following documents:
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: N/A
PubMed Link: 36241656
Variant Present in the following documents:
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: N/A
PubMed Link: 36075891
Variant Present in the following documents:
View BVdb publication page



Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

Genes
Ekkert, Aleksandra A; Šliachtenko, Aleksandra A; Grigaitė, Julija J; Burnytė, Birutė B; Utkus, Algirdas A; Jatužis, Dalius D
Publication Date: 2021-12-24

Variant appearance in text: rs2229383
PubMed Link: 35052389
Variant Present in the following documents:
  • Main text
  • genes-13-00048.pdf
View BVdb publication page



Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

Genes
Ekkert, Aleksandra A; Šliachtenko, Aleksandra A; Grigaitė, Julija J; Burnytė, Birutė B; Utkus, Algirdas A; Jatužis, Dalius D
Publication Date: 2021-12-24

Variant appearance in text: rs2229383
PubMed Link: 35052389
Variant Present in the following documents:
  • Main text
  • genes-13-00048.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: N/A
PubMed Link: 34054912
Variant Present in the following documents:
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: N/A
PubMed Link: 33791233
Variant Present in the following documents:
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs2229383
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Heritability for stroke: Essential for taking family history.

Caspian Journal Of Internal Medicine
Pourasgari, Masoumeh M; Mohamadkhani, Ashraf A
Publication Date: 2020-05

Variant appearance in text: rs2229383
PubMed Link: 32874429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stroke and Alzheimer's Disease: A Mendelian Randomization Study.

Frontiers In Genetics
Wang, Tao T; Ni, Qing-Bin QB; Wang, Kun K; Han, Zhifa Z; Sun, Bao-Liang BL
Publication Date: 2020

Variant appearance in text: rs2229383
PubMed Link: 32760421
Variant Present in the following documents:
  • Main text
  • fgene-11-00581.pdf
View BVdb publication page



A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.

Journal Of Translational Medicine
Jian, Mi M; Ren, Li L; He, Guodong G; Lin, Qi Q; Tang, Wentao W; Chen, Yijiao Y; Chen, Jingwen J; Liu, Tianyu T; Ji, Meiling M; Wei, Ye Y; Chang, Wenju W; Xu, Jianmin J
Publication Date: 2020-06-12

Variant appearance in text: N/A
PubMed Link: 32532289
Variant Present in the following documents:
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: N/A
PubMed Link: 32529721
Variant Present in the following documents:
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: rs2229383
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2229383
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An analysis of mutational signatures of synonymous mutations across 15 cancer types.

Bmc Medical Genetics
Bin, Yannan Y; Wang, Xiaojuan X; Zhao, Le L; Wen, Pengbo P; Xia, Junfeng J
Publication Date: 2019-12-09

Variant appearance in text: ILF3: 2055G>T
PubMed Link: 31815613
Variant Present in the following documents:
  • 12881_2019_926_MOESM2_ESM.xlsx, sheet 1
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: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs2229383
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
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: ILF3: 2055G>T; rs2229383
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Nature Genetics
Malik, Rainer R; Chauhan, Ganesh G; Traylor, Matthew M; Sargurupremraj, Muralidharan M; Okada, Yukinori Y; Mishra, Aniket A; Rutten-Jacobs, Loes L; Giese, Anne-Katrin AK; van der Laan, Sander W SW; Gretarsdottir, Solveig S; Anderson, Christopher D CD; Chong, Michael M; Adams, Hieab H H HHH; Ago, Tetsuro T; Almgren, Peter P; Amouyel, Philippe P; Ay, Hakan H; Bartz, Traci M TM; Benavente, Oscar R OR; Bevan, Steve S; Boncoraglio, Giorgio B GB; Brown, Robert D RD; Butterworth, Adam S AS; Carrera, Caty C; Carty, Cara L CL; Chasman, Daniel I DI; Chen, Wei-Min WM; Cole, John W JW; Correa, Adolfo A; Cotlarciuc, Ioana I; Cruchaga, Carlos C; Danesh, John J; de Bakker, Paul I W PIW; DeStefano, Anita L AL; den Hoed, Marcel M; Duan, Qing Q; Engelter, Stefan T ST; Falcone, Guido J GJ; Gottesman, Rebecca F RF; Grewal, Raji P RP; Gudnason, Vilmundur V; Gustafsson, Stefan S; Haessler, Jeffrey J; Harris, Tamara B TB; Hassan, Ahamad A; Havulinna, Aki S AS; Heckbert, Susan R SR; Holliday, Elizabeth G EG; Howard, George G; Hsu, Fang-Chi FC; Hyacinth, Hyacinth I HI; Ikram, M Arfan MA; Ingelsson, Erik E; Irvin, Marguerite R MR; Jian, Xueqiu X; Jiménez-Conde, Jordi J; Johnson, Julie A JA; Jukema, J Wouter JW; Kanai, Masahiro M; Keene, Keith L KL; Kissela, Brett M BM; Kleindorfer, Dawn O DO; Kooperberg, Charles C; Kubo, Michiaki M; Lange, Leslie A LA; Langefeld, Carl D CD; Langenberg, Claudia C; Launer, Lenore J LJ; Lee, Jin-Moo JM; Lemmens, Robin R; Leys, Didier D; Lewis, Cathryn M CM; Lin, Wei-Yu WY; Lindgren, Arne G AG; Lorentzen, Erik E; Magnusson, Patrik K PK; Maguire, Jane J; Manichaikul, Ani A; McArdle, Patrick F PF; Meschia, James F JF; Mitchell, Braxton D BD; Mosley, Thomas H TH; Nalls, Michael A MA; Ninomiya, Toshiharu T; O'Donnell, Martin J MJ; Psaty, Bruce M BM; Pulit, Sara L SL; Rannikmäe, Kristiina K; Reiner, Alexander P AP; Rexrode, Kathryn M KM; Rice, Kenneth K; Rich, Stephen S SS; Ridker, Paul M PM; Rost, Natalia S NS; Rothwell, Peter M PM; Rotter, Jerome I JI; Rundek, Tatjana T; Sacco, Ralph L RL; Sakaue, Saori S; Sale, Michele M MM; Salomaa, Veikko V; Sapkota, Bishwa R BR; Schmidt, Reinhold R; Schmidt, Carsten O CO; Schminke, Ulf U; Sharma, Pankaj P; Slowik, Agnieszka A; Sudlow, Cathie L M CLM; Tanislav, Christian C; Tatlisumak, Turgut T; Taylor, Kent D KD; Thijs, Vincent N S VNS; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tiedt, Steffen S; Trompet, Stella S; Tzourio, Christophe C; van Duijn, Cornelia M CM; Walters, Matthew M; Wareham, Nicholas J NJ; Wassertheil-Smoller, Sylvia S; Wilson, James G JG; Wiggins, Kerri L KL; Yang, Qiong Q; Yusuf, Salim S; , ; , ; , ; , ; , ; Bis, Joshua C JC; Pastinen, Tomi T; Ruusalepp, Arno A; Schadt, Eric E EE; Koplev, Simon S; Björkegren, Johan L M JLM; Codoni, Veronica V; Civelek, Mete M; Smith, Nicholas L NL; Trégouët, David A DA; Christophersen, Ingrid E IE; Roselli, Carolina C; Lubitz, Steven A SA; Ellinor, Patrick T PT; Tai, E Shyong ES; Kooner, Jaspal S JS; Kato, Norihiro N; He, Jiang J; van der Harst, Pim P; Elliott, Paul P; Chambers, John C JC; Takeuchi, Fumihiko F; Johnson, Andrew D AD; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Sanghera, Dharambir K DK; Melander, Olle O; Jern, Christina C; Strbian, Daniel D; Fernandez-Cadenas, Israel I; Longstreth, W T WT; Rolfs, Arndt A; Hata, Jun J; Woo, Daniel D; Rosand, Jonathan J; Pare, Guillaume G; Hopewell, Jemma C JC; Saleheen, Danish D; Stefansson, Kari K; Worrall, Bradford B BB; Kittner, Steven J SJ; Seshadri, Sudha S; Fornage, Myriam M; Markus, Hugh S HS; Howson, Joanna M M JMM; Kamatani, Yoichiro Y; Debette, Stephanie S; Dichgans, Martin M
Publication Date: 2018-04

Variant appearance in text: rs2229383
PubMed Link: 29531354
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: N/A
PubMed Link: 29221171
Variant Present in the following documents:
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: rs2229383
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: N/A
PubMed Link: 28535796
Variant Present in the following documents:
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: N/A
PubMed Link: 26549847
Variant Present in the following documents:
View BVdb publication page



Host genetic variation impacts microbiome composition across human body sites.

Genome Biology
Blekhman, Ran R; Goodrich, Julia K JK; Huang, Katherine K; Sun, Qi Q; Bukowski, Robert R; Bell, Jordana T JT; Spector, Timothy D TD; Keinan, Alon A; Ley, Ruth E RE; Gevers, Dirk D; Clark, Andrew G AG
Publication Date: 2015-09-15

Variant appearance in text: rs2229383
PubMed Link: 26374288
Variant Present in the following documents:
  • 13059_2015_759_MOESM2_ESM.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: N/A
PubMed Link: 25944692
Variant Present in the following documents:
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: N/A
PubMed Link: 25496518
Variant Present in the following documents:
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: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: ILF3: S685S; rs2229383
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs2229383
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page