HSPB7 c.*426G>A

Variant ID: 1-16341649-C-T

NM_014424.4(HSPB7):c.*426G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: rs1048238
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs1048238
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



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: rs1048238
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrative analysis reveals RNA G-quadruplexes in UTRs are selectively constrained and enriched for functional associations.

Nature Communications
Lee, David S M DSM; Ghanem, Louis R LR; Barash, Yoseph Y
Publication Date: 2020-01-27

Variant appearance in text: rs1048238
PubMed Link: 31988292
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14404.pdf
View BVdb publication page



Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Wang, Yan Y; Wang, Ji-Guang JG
Publication Date: 2019-04

Variant appearance in text: rs1048238
PubMed Link: 31049317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology
Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB
Publication Date: 2018

Variant appearance in text: rs1048238
PubMed Link: 29666641
Variant Present in the following documents:
  • Main text
  • IJE2018-7259704.pdf
View BVdb publication page



Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Hypertension (Dallas, Tex. : 1979)
Wain, Louise V LV; Vaez, Ahmad A; Jansen, Rick R; Joehanes, Roby R; van der Most, Peter J PJ; Erzurumluoglu, A Mesut AM; O'Reilly, Paul F PF; Cabrera, Claudia P CP; Warren, Helen R HR; Rose, Lynda M LM; Verwoert, Germaine C GC; Hottenga, Jouke-Jan JJ; Strawbridge, Rona J RJ; Esko, Tonu T; Arking, Dan E DE; Hwang, Shih-Jen SJ; Guo, Xiuqing X; Kutalik, Zoltan Z; Trompet, Stella S; Shrine, Nick N; Teumer, Alexander A; Ried, Janina S JS; Bis, Joshua C JC; Smith, Albert V AV; Amin, Najaf N; Nolte, Ilja M IM; Lyytikäinen, Leo-Pekka LP; Mahajan, Anubha A; Wareham, Nicholas J NJ; Hofer, Edith E; Joshi, Peter K PK; Kristiansson, Kati K; Traglia, Michela M; Havulinna, Aki S AS; Goel, Anuj A; Nalls, Mike A MA; Sõber, Siim S; Vuckovic, Dragana D; Luan, Jian'an J; Del Greco M, Fabiola F; Ayers, Kristin L KL; Marrugat, Jaume J; Ruggiero, Daniela D; Lopez, Lorna M LM; Niiranen, Teemu T; Enroth, Stefan S; Jackson, Anne U AU; Nelson, Christopher P CP; Huffman, Jennifer E JE; Zhang, Weihua W; Marten, Jonathan J; Gandin, Ilaria I; Harris, Sarah E SE; Zemunik, Tatijana T; Lu, Yingchang Y; Evangelou, Evangelos E; Shah, Nabi N; de Borst, Martin H MH; Mangino, Massimo M; Prins, Bram P BP; Campbell, Archie A; Li-Gao, Ruifang R; Chauhan, Ganesh G; Oldmeadow, Christopher C; Abecasis, Gonçalo G; Abedi, Maryam M; Barbieri, Caterina M CM; Barnes, Michael R MR; Batini, Chiara C; Beilby, John J; Blake, Tineka T; Boehnke, Michael M; Bottinger, Erwin P EP; Braund, Peter S PS; Brown, Morris M; Brumat, Marco M; Campbell, Harry H; Chambers, John C JC; Cocca, Massimiliano M; Collins, Francis F; Connell, John J; Cordell, Heather J HJ; Damman, Jeffrey J JJ; Davies, Gail G; de Geus, Eco J EJ; de Mutsert, Renée R; Deelen, Joris J; Demirkale, Yusuf Y; Doney, Alex S F ASF; Dörr, Marcus M; Farrall, Martin M; Ferreira, Teresa T; Frånberg, Mattias M; Gao, He H; Giedraitis, Vilmantas V; Gieger, Christian C; Giulianini, Franco F; Gow, Alan J AJ; Hamsten, Anders A; Harris, Tamara B TB; Hofman, Albert A; Holliday, Elizabeth G EG; Hui, Jennie J; Jarvelin, Marjo-Riitta MR; Johansson, Åsa Å; Johnson, Andrew D AD; Jousilahti, Pekka P; Jula, Antti A; Kähönen, Mika M; Kathiresan, Sekar S; Khaw, Kay-Tee KT; Kolcic, Ivana I; Koskinen, Seppo S; Langenberg, Claudia C; Larson, Marty M; Launer, Lenore J LJ; Lehne, Benjamin B; Liewald, David C M DCM; Lin, Li L; Lind, Lars L; Mach, François F; Mamasoula, Chrysovalanto C; Menni, Cristina C; Mifsud, Borbala B; Milaneschi, Yuri Y; Morgan, Anna A; Morris, Andrew D AD; Morrison, Alanna C AC; Munson, Peter J PJ; Nandakumar, Priyanka P; Nguyen, Quang Tri QT; Nutile, Teresa T; Oldehinkel, Albertine J AJ; Oostra, Ben A BA; Org, Elin E; Padmanabhan, Sandosh S; Palotie, Aarno A; Paré, Guillaume G; Pattie, Alison A; Penninx, Brenda W J H BWJH; Poulter, Neil N; Pramstaller, Peter P PP; Raitakari, Olli T OT; Ren, Meixia M; Rice, Kenneth K; Ridker, Paul M PM; Riese, Harriëtte H; Ripatti, Samuli S; Robino, Antonietta A; Rotter, Jerome I JI; Rudan, Igor I; Saba, Yasaman Y; Saint Pierre, Aude A; Sala, Cinzia F CF; Sarin, Antti-Pekka AP; Schmidt, Reinhold R; Scott, Rodney R; Seelen, Marc A MA; Shields, Denis C DC; Siscovick, David D; Sorice, Rossella R; Stanton, Alice A; Stott, David J DJ; Sundström, Johan J; Swertz, Morris M; Taylor, Kent D KD; Thom, Simon S; Tzoulaki, Ioanna I; Tzourio, Christophe C; Uitterlinden, André G AG; Völker, Uwe U; Vollenweider, Peter P; Wild, Sarah S; Willemsen, Gonneke G; Wright, Alan F AF; Yao, Jie J; Thériault, Sébastien S; Conen, David D; Attia, John J; Sever, Peter P; Debette, Stéphanie S; Mook-Kanamori, Dennis O DO; Zeggini, Eleftheria E; Spector, Tim D TD; van der Harst, Pim P; Palmer, Colin N A CNA; Vergnaud, Anne-Claire AC; Loos, Ruth J F RJF; Polasek, Ozren O; Starr, John M JM; Girotto, Giorgia G; Hayward, Caroline C; Kooner, Jaspal S JS; Lindgren, Cecila M CM; Vitart, Veronique V; Samani, Nilesh J NJ; Tuomilehto, Jaakko J; Gyllensten, Ulf U; Knekt, Paul P; Deary, Ian J IJ; Ciullo, Marina M; Elosua, Roberto R; Keavney, Bernard D BD; Hicks, Andrew A AA; Scott, Robert A RA; Gasparini, Paolo P; Laan, Maris M; Liu, YongMei Y; Watkins, Hugh H; Hartman, Catharina A CA; Salomaa, Veikko V; Toniolo, Daniela D; Perola, Markus M; Wilson, James F JF; Schmidt, Helena H; Zhao, Jing Hua JH; Lehtimäki, Terho T; van Duijn, Cornelia M CM; Gudnason, Vilmundur V; Psaty, Bruce M BM; Peters, Annette A; Rettig, Rainer R; James, Alan A; Jukema, J Wouter JW; Strachan, David P DP; Palmas, Walter W; Metspalu, Andres A; Ingelsson, Erik E; Boomsma, Dorret I DI; Franco, Oscar H OH; Bochud, Murielle M; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Elliott, Paul P; Chasman, Daniel I DI; Chakravarti, Aravinda A; Knight, Joanne J; Morris, Andrew P AP; Levy, Daniel D; Tobin, Martin D MD; Snieder, Harold H; Caulfield, Mark J MJ; Ehret, Georg B GB
Publication Date: 2017-07-24

Variant appearance in text: rs1048238
PubMed Link: 28739976
Variant Present in the following documents:
  • Main text
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: rs1048238
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genetic variation in the progesterone receptor gene and risk of endometrial cancer: a haplotype-based approach.

Carcinogenesis
Lee, Eunjung E; Hsu, Chris C; Haiman, Christopher A CA; Razavi, Pedram P; Horn-Ross, Pamela L PL; Van Den Berg, David D; Bernstein, Leslie L; Le Marchand, Loic L; Henderson, Brian E BE; Setiawan, V Wendy VW; Ursin, Giske G
Publication Date: 2010-08

Variant appearance in text: rs1048238
PubMed Link: 20547493
Variant Present in the following documents:
  • Main text
View BVdb publication page