NUBP2 c.*121C>G

Variant ID: 16-1838836-C-G

NM_012225.2(NUBP2):c.*121C>G

This variant was identified in 26 publications

View GRCh38 version.




Publications:


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: rs1065656
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs1065656
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: rs1065656
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs1065656
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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: rs1065656
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_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: rs1065656
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology
Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP
Publication Date: 2021

Variant appearance in text: rs1065656
PubMed Link: 34692690
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
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: rs1065656
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: rs1065656
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: rs1065656
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Mendelian randomization provides evidence for a causal effect of higher serum IGF-1 concentration on risk of hip and knee osteoarthritis.

Rheumatology (Oxford, England)
Hartley, April A; Sanderson, Eleanor E; Paternoster, Lavinia L; Teumer, Alexander A; Kaplan, Robert C RC; Tobias, Jon H JH; Gregson, Celia L CL
Publication Date: 2021-04-06

Variant appearance in text: rs1065656
PubMed Link: 33027520
Variant Present in the following documents:
  • Main text
  • keaa597.pdf
View BVdb publication page



A decade of epigenetic change in aging twins: Genetic and environmental contributions to longitudinal DNA methylation.

Aging Cell
Reynolds, Chandra A CA; Tan, Qihua Q; Munoz, Elizabeth E; Jylhävä, Juulia J; Hjelmborg, Jacob J; Christiansen, Lene L; Hägg, Sara S; Pedersen, Nancy L NL
Publication Date: 2020-08

Variant appearance in text: rs1065656
PubMed Link: 32710526
Variant Present in the following documents:
  • Main text
  • ACEL-19-e13197.pdf
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: rs1065656
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology
Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ
Publication Date: 2020-04

Variant appearance in text: rs1065656
PubMed Link: 31884074
Variant Present in the following documents:
  • Main text
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: rs1065656
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Reassessing the Association between Circulating Vitamin D and IGFBP-3: Observational and Mendelian Randomization Estimates from Independent Sources.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Tan, Vanessa Y VY; Biernacka, Kalina M KM; Dudding, Tom T; Bonilla, Carolina C; Gilbert, Rebecca R; Kaplan, Robert C RC; Qibin, Qi Q; Teumer, Alexander A; Martin, Richard M RM; Perks, Claire M CM; Timpson, Nicholas J NJ; Holly, Jeff M P JMP; ,
Publication Date: 2018-12

Variant appearance in text: rs1065656
PubMed Link: 30072546
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating insulin-like growth factors and Alzheimer disease: A mendelian randomization study.

Neurology
Williams, Dylan M DM; Karlsson, Ida K IK; Pedersen, Nancy L NL; Hägg, Sara S
Publication Date: 2018-01-23

Variant appearance in text: rs1065656
PubMed Link: 29282328
Variant Present in the following documents:
  • NEUROLOGY2017817544.pdf
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: rs1065656
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, 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: rs1065656
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: rs1065656
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits.

Aging Cell
Teumer, Alexander A; Qi, Qibin Q; Nethander, Maria M; Aschard, Hugues H; Bandinelli, Stefania S; Beekman, Marian M; Berndt, Sonja I SI; Bidlingmaier, Martin M; Broer, Linda L; , ; Cappola, Anne A; Ceda, Gian Paolo GP; Chanock, Stephen S; Chen, Ming-Huei MH; Chen, Tai C TC; Chen, Yii-Der Ida YD; Chung, Jonathan J; Del Greco Miglianico, Fabiola F; Eriksson, Joel J; Ferrucci, Luigi L; Friedrich, Nele N; Gnewuch, Carsten C; Goodarzi, Mark O MO; Grarup, Niels N; Guo, Tingwei T; Hammer, Elke E; Hayes, Richard B RB; Hicks, Andrew A AA; Hofman, Albert A; Houwing-Duistermaat, Jeanine J JJ; Hu, Frank F; Hunter, David J DJ; Husemoen, Lise L LL; Isaacs, Aaron A; Jacobs, Kevin B KB; Janssen, Joop A M J L JA; Jansson, John-Olov JO; Jehmlich, Nico N; Johnson, Simon S; Juul, Anders A; Karlsson, Magnus M; Kilpelainen, Tuomas O TO; Kovacs, Peter P; Kraft, Peter P; Li, Chao C; Linneberg, Allan A; Liu, Yongmei Y; Loos, Ruth J F RJ; , ; Lorentzon, Mattias M; Lu, Yingchang Y; Maggio, Marcello M; Magi, Reedik R; Meigs, James J; Mellström, Dan D; Nauck, Matthias M; Newman, Anne B AB; Pollak, Michael N MN; Pramstaller, Peter P PP; Prokopenko, Inga I; Psaty, Bruce M BM; Reincke, Martin M; Rimm, Eric B EB; Rotter, Jerome I JI; Saint Pierre, Aude A; Schurmann, Claudia C; Seshadri, Sudha S; Sjögren, Klara K; Slagboom, P Eline PE; Strickler, Howard D HD; Stumvoll, Michael M; Suh, Yousin Y; Sun, Qi Q; Zhang, Cuilin C; Svensson, Johan J; Tanaka, Toshiko T; Tare, Archana A; Tönjes, Anke A; Uh, Hae-Won HW; van Duijn, Cornelia M CM; van Heemst, Diana D; Vandenput, Liesbeth L; Vasan, Ramachandran S RS; Völker, Uwe U; Willems, Sara M SM; Ohlsson, Claes C; Wallaschofski, Henri H; Kaplan, Robert C RC
Publication Date: 2016-10

Variant appearance in text: rs1065656
PubMed Link: 27329260
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the role of insulin-like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels.

International Journal Of Cancer
Bonilla, Carolina C; Lewis, Sarah J SJ; Rowlands, Mari-Anne MA; Gaunt, Tom R TR; Davey Smith, George G; Gunnell, David D; Palmer, Tom T; Donovan, Jenny L JL; Hamdy, Freddie C FC; Neal, David E DE; Eeles, Rosalind R; Easton, Doug D; Kote-Jarai, Zsofia Z; Al Olama, Ali Amin AA; Benlloch, Sara S; Muir, Kenneth K; Giles, Graham G GG; Wiklund, Fredrik F; Grönberg, Henrik H; Haiman, Christopher A CA; Schleutker, Johanna J; Nordestgaard, Børge G BG; Travis, Ruth C RC; Pashayan, Nora N; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen S; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Brenner, Hermann H; Park, Jong J; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Pandha, Hardev H; , ; Lathrop, Mark M; Martin, Richard M RM; Holly, Jeff M P JM
Publication Date: 2016-10-01

Variant appearance in text: rs1065656
PubMed Link: 27225428
Variant Present in the following documents:
  • Main text
  • IJC-139-1520.pdf
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: rs1065656
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
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: rs1065656
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.

Human Mutation
Sabarinathan, Radhakrishnan R; Tafer, Hakim H; Seemann, Stefan E SE; Hofacker, Ivo L IL; Stadler, Peter F PF; Gorodkin, Jan J
Publication Date: 2013-04

Variant appearance in text: rs1065656
PubMed Link: 23315997
Variant Present in the following documents:
  • humu0034-0546-SD1.pdf
View BVdb publication page



A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.

Human Molecular Genetics
Kaplan, Robert C RC; Petersen, Ann-Kristin AK; Chen, Ming-Huei MH; Teumer, Alexander A; Glazer, Nicole L NL; Döring, Angela A; Lam, Carolyn S P CS; Friedrich, Nele N; Newman, Anne A; Müller, Martina M; Yang, Qiong Q; Homuth, Georg G; Cappola, Anne A; Klopp, Norman N; Smith, Holly H; Ernst, Florian F; Psaty, Bruce M BM; Wichmann, H-Erich HE; Sawyer, Douglas B DB; Biffar, Reiner R; Rotter, Jerome I JI; Gieger, Christian C; Sullivan, Lisa S LS; Völzke, Henry H; Rice, Kenneth K; Spyroglou, Ariadni A; Kroemer, Heyo K HK; Ida Chen, Y-D YD; Manolopoulou, Jenny J; Nauck, Matthias M; Strickler, Howard D HD; Goodarzi, Mark O MO; Reincke, Martin M; Pollak, Michael N MN; Bidlingmaier, Martin M; Vasan, Ramachandran S RS; Wallaschofski, Henri H
Publication Date: 2011-03-15

Variant appearance in text: rs1065656
PubMed Link: 21216879
Variant Present in the following documents:
  • Main text
View BVdb publication page