CAMKK2 c.1596+689A>G

Variant ID: 12-121681687-T-C

NM_001270485.1(CAMKK2):c.1596+689A>G

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Associations of cognitive impairment in patients with schizophrenia with genetic features and with schizophrenia-related structural and functional brain changes.

Frontiers In Genetics
Zhuo, Chuanjun C; Tian, Hongjun H; Chen, Jiayue J; Li, Qianchen Q; Yang, Lei L; Zhang, Qiuyu Q; Chen, Guangdong G; Cheng, Langlang L; Zhou, Chunhua C; Song, Xueqin X
Publication Date: 2022

Variant appearance in text: rs1063843
PubMed Link: 36061201
Variant Present in the following documents:
  • Main text
  • fgene-13-880027.pdf
View BVdb publication page



Evidence for the contribution of HCN1 gene polymorphism (rs1501357) to working memory at both behavioral and neural levels in schizophrenia patients and healthy controls.

Schizophrenia (Heidelberg, Germany)
Chen, Xiongying X; Zhang, Qiumei Q; Su, Yanyan Y; Zhao, Wan W; Li, Yang Y; Du, Boqi B; Deng, Xiaoxiang X; Ji, Feng F; Dong, Qi Q; Chen, Chuansheng C; Li, Jun J
Publication Date: 2022-08-20

Variant appearance in text: rs1063843
PubMed Link: 35987754
Variant Present in the following documents:
  • Main text
  • 41537_2022_Article_271.pdf
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: CAMKK2: 1596+689A>G; rs1063843
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.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: rs1063843
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Epidermal Growth Factor Receptor Inhibition Reverses Cellular and Transcriptomic Alterations Induced by Hypoxia in the Neonatal Piglet Brain.

Iscience
Kratimenos, Panagiotis P; Goldstein, Evan Z EZ; Koutroulis, Ioannis I; Knoblach, Susan S; Jablonska, Beata B; Banerjee, Payal P; Malaeb, Shadi N SN; Bhattacharya, Surajit S; Almira-Suarez, M Isabel MI; Gallo, Vittorio V; Delivoria-Papadopoulos, Maria M
Publication Date: 2020-12-18

Variant appearance in text: rs1063843
PubMed Link: 33294779
Variant Present in the following documents:
  • main.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: rs1063843
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Frontiers In Genetics
Chang, Xiao X; Lima, Leandro de Araujo LA; Liu, Yichuan Y; Li, Jin J; Li, Qingqin Q; Sleiman, Patrick M A PMA; Hakonarson, Hakon H
Publication Date: 2018

Variant appearance in text: rs1063843
PubMed Link: 30323833
Variant Present in the following documents:
  • Main text
  • fgene-09-00434.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: CAMKK2: 1596+689A>G; rs1063843
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



A Comprehensive Analysis of Nuclear-Encoded Mitochondrial Genes in Schizophrenia.

Biological Psychiatry
Gonçalves, Vanessa F VF; Cappi, Carolina C; Hagen, Christian M CM; Sequeira, Adolfo A; Vawter, Marquis P MP; Derkach, Andriy A; Zai, Clement C CC; Hedley, Paula L PL; Bybjerg-Grauholm, Jonas J; Pouget, Jennie G JG; Cuperfain, Ari B AB; Sullivan, Patrick F PF; Christiansen, Michael M; Kennedy, James L JL; Sun, Lei L
Publication Date: 2018-05-01

Variant appearance in text: rs1063843
PubMed Link: 29628042
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: rs1063843
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Progress in genome-wide association studies of schizophrenia in Han Chinese populations.

Npj Schizophrenia
Yue, Weihua W; Yu, Xin X; Zhang, Dai D
Publication Date: 2017-08-10

Variant appearance in text: rs1063843
PubMed Link: 28798405
Variant Present in the following documents:
  • Main text
  • 41537_2017_Article_29.pdf
View BVdb publication page



Impact of Genetic Variation on Human CaMKK2 Regulation by Ca2+-Calmodulin and Multisite Phosphorylation.

Scientific Reports
O'Brien, Matthew T MT; Oakhill, Jonathan S JS; Ling, Naomi X Y NX; Langendorf, Christopher G CG; Hoque, Ashfaqul A; Dite, Toby A TA; Means, Anthony R AR; Kemp, Bruce E BE; Scott, John W JW
Publication Date: 2017-02-23

Variant appearance in text: rs1063843
PubMed Link: 28230171
Variant Present in the following documents:
  • Main text
  • srep43264.pdf
View BVdb publication page



Effect of rs1063843 in the CAMKK2 gene on the dorsolateral prefrontal cortex.

Human Brain Mapping
Yu, Ping P; Chen, Xiongying X; Zhao, Wan W; Zhang, Zhifang Z; Zhang, Qiumei Q; Han, Bingqian B; Zhai, Jinguo J; Chen, Min M; Du, Boqi B; Deng, Xiaoxiang X; Ji, Feng F; Wang, Chuanyue C; Xiang, Yu-Tao YT; Li, Dawei D; Wu, Hongjie H; Li, Jun J; Dong, Qi Q; Chen, Chuansheng C
Publication Date: 2016-07

Variant appearance in text: rs1063843
PubMed Link: 27004598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autophosphorylation of CaMKK2 generates autonomous activity that is disrupted by a T85S mutation linked to anxiety and bipolar disorder.

Scientific Reports
Scott, John W JW; Park, Elizabeth E; Rodriguiz, Ramona M RM; Oakhill, Jonathan S JS; Issa, Samah M A SM; O'Brien, Matthew T MT; Dite, Toby A TA; Langendorf, Christopher G CG; Wetsel, William C WC; Means, Anthony R AR; Kemp, Bruce E BE
Publication Date: 2015-09-23

Variant appearance in text: rs1063843
PubMed Link: 26395653
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: rs1063843
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genome-wide haplotype analysis of cis expression quantitative trait loci in monocytes.

Plos Genetics
Garnier, Sophie S; Truong, Vinh V; Brocheton, Jessy J; Zeller, Tanja T; Rovital, Maxime M; Wild, Philipp S PS; Ziegler, Andreas A; , ; Munzel, Thomas T; Tiret, Laurence L; Blankenberg, Stefan S; Deloukas, Panos P; Erdmann, Jeannette J; Hengstenberg, Christian C; Samani, Nilesh J NJ; Schunkert, Heribert H; Ouwehand, Willem H WH; Goodall, Alison H AH; Cambien, François F; Trégouët, David-Alexandre DA
Publication Date: 2013

Variant appearance in text: rs1063843
PubMed Link: 23382694
Variant Present in the following documents:
  • Main text
View BVdb publication page



Connection between genetic and clinical data in bipolar disorder.

Plos One
Mellerup, Erling E; Andreassen, Ole O; Bennike, Bente B; Dam, Henrik H; Djurovic, Srdjan S; Durovic, Srdjan S; Hansen, Thomas T; Melle, Ingrid I; Møller, Gert Lykke GL; Mors, Ole O; Koefoed, Pernille P
Publication Date: 2012

Variant appearance in text: rs1063843
PubMed Link: 23028568
Variant Present in the following documents:
  • Main text
  • pone.0044623.pdf
View BVdb publication page