BDNF c.547G>A ;(p.E183K)

Variant ID: 11-27679565-C-T

NM_001709.4(BDNF):c.547G>A;(p.E183K)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: BDNF: E183K
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: BDNF: E183K
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



The Pleiotropic Potential of BDNF beyond Neurons: Implication for a Healthy Mind in a Healthy Body.

Life (Basel, Switzerland)
Di Rosa, Maria Carmela MC; Zimbone, Stefania S; Saab, Miriam Wissam MW; Tomasello, Marianna Flora MF
Publication Date: 2021-11-17

Variant appearance in text: BDNF: E183K
PubMed Link: 34833132
Variant Present in the following documents:
  • Main text
  • life-11-01256.pdf
View BVdb publication page



A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
da Fonseca, Ana Carolina Proença ACP; Abreu, Gabriella de Medeiros GM; Palhinha, Lohanna L; Zembrzuski, Verônica Marques VM; Campos Junior, Mario M; Carneiro, João Regis Ivar JRI; Nogueira Neto, José Firmino JF; Magno, Fernanda Cristina C Mattos FCCM; Rosado, Eliane Lopes EL; Maya-Monteiro, Clarissa Menezes CM; de Cabello, Giselda Maria Kalil GMK; Cabello, Pedro Hernán PH; Bozza, Patricia Torres PT
Publication Date: 2021

Variant appearance in text: BDNF: Glu183Lys
PubMed Link: 33442278
Variant Present in the following documents:
  • Main text
  • dmso-14-11.pdf
View BVdb publication page



Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities.

Scientific Reports
Sonoyama, Takuhiro T; Stadler, Lukas K J LKJ; Zhu, Mingyan M; Keogh, Julia M JM; Henning, Elana E; Hisama, Fuki F; Kirwan, Peter P; Jura, Magdalena M; Blaszczyk, Beata K BK; DeWitt, David C DC; Brouwers, Bas B; Hyvönen, Marko M; Barroso, Inês I; Merkle, Florian T FT; Appleyard, Suzanne M SM; Wayman, Gary A GA; Farooqi, I Sadaf IS
Publication Date: 2020-06-03

Variant appearance in text: BDNF: E183K
PubMed Link: 32493978
Variant Present in the following documents:
  • Main text
  • 41598_2020_65531_MOESM3_ESM.pdf
  • 41598_2020_Article_65531.pdf
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: BDNF: 547G>A; G183R
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.

Scientific Reports
Hendricks, Audrey E AE; Bochukova, Elena G EG; Marenne, Gaëlle G; Keogh, Julia M JM; Atanassova, Neli N; Bounds, Rebecca R; Wheeler, Eleanor E; Mistry, Vanisha V; Henning, Elana E; Körner, Antje A; Muddyman, Dawn D; McCarthy, Shane S; Hinney, Anke A; Hebebrand, Johannes J; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nick J NJ; Surendran, Praveen P; Howson, Joanna M JM; Butterworth, Adam S AS; Danesh, John J; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Afzal, Shoaib S; Papadia, Sofia S; Ashford, Sofie S; Garg, Sumedha S; Millhauser, Glenn L GL; Palomino, Rafael I RI; Kwasniewska, Alexandra A; Tachmazidou, Ioanna I; O'Rahilly, Stephen S; Zeggini, Eleftheria E; Barroso, Inês I; Farooqi, I Sadaf IS; , ; , ; ,
Publication Date: 2017-06-29

Variant appearance in text: BDNF: E183K
PubMed Link: 28663568
Variant Present in the following documents:
  • 41598_2017_3054_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: BDNF: E183K
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports
Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF
Publication Date: 2016-03-15

Variant appearance in text: BDNF: E183K
PubMed Link: 26975833
Variant Present in the following documents:
  • srep23167-s9.xls, sheet 1
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: BDNF: E183K
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page