CACNA1C c.477+119988G>C

Variant ID: 12-2349584-G-C

NM_000719.6(CACNA1C):c.477+119988G>C

This variant was identified in 36 publications

View GRCh38 version.




Publications:


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: rs4765905
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia.

Genes
Refisch, Alexander A; Komatsuzaki, Shoko S; Ungelenk, Martin M; Schumann, Andy A; Chung, Ha-Yeun HY; Schilling, Susann S SS; Jantzen, Wibke W; Schröder, Sabine S; Nöthen, Markus M MM; Mühleisen, Thomas W TW; Hübner, Christian A CA; Bär, Karl-Jürgen KJ
Publication Date: 2022-11-16

Variant appearance in text: rs4765905
PubMed Link: 36421807
Variant Present in the following documents:
  • Main text
  • genes-13-02132.pdf
View BVdb publication page



Preliminary studies on apparent mendelian psychotic disorders in consanguineous families.

Bmc Psychiatry
Kanwal, Ambreen A; Sheikh, Sohail A SA; Iftikhar, Amina A; Naz, Sadaf S; Pardo, José V JV
Publication Date: 2022-11-16

Variant appearance in text: rs4765905
PubMed Link: 36384485
Variant Present in the following documents:
  • Main text
  • 12888_2022_Article_4304.pdf
View BVdb publication page



Association and Gene-Gene Interactions Study of Late-Onset Alzheimer's Disease in the Russian Population.

Genes
Bocharova, Anna A; Vagaitseva, Kseniya K; Marusin, Andrey A; Zhukova, Natalia N; Zhukova, Irina I; Minaycheva, Larisa L; Makeeva, Oksana O; Stepanov, Vadim V
Publication Date: 2021-10-19

Variant appearance in text: rs4765905
PubMed Link: 34681041
Variant Present in the following documents:
  • Main text
  • genes-12-01647.pdf
View BVdb publication page



A systematic review of common genetic variation and biological pathways in autism spectrum disorder.

Bmc Neuroscience
Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C
Publication Date: 2021-10-09

Variant appearance in text: rs4765905
PubMed Link: 34627165
Variant Present in the following documents:
  • 12868_2021_662_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Parallel functional testing identifies enhancers active in early postnatal mouse brain.

Elife
Lambert, Jason T JT; Su-Feher, Linda L; Cichewicz, Karol K; Warren, Tracy L TL; Zdilar, Iva I; Wang, Yurong Y; Lim, Kenneth J KJ; Haigh, Jessica L JL; Morse, Sarah J SJ; Canales, Cesar P CP; Stradleigh, Tyler W TW; Castillo Palacios, Erika E; Haghani, Viktoria V; Moss, Spencer D SD; Parolini, Hannah H; Quintero, Diana D; Shrestha, Diwash D; Vogt, Daniel D; Byrne, Leah C LC; Nord, Alex S AS
Publication Date: 2021-10-04

Variant appearance in text: rs4765905
PubMed Link: 34605404
Variant Present in the following documents:
  • Main text
  • elife-69479.pdf
View BVdb publication page



The genome-wide supported CACNA1C gene polymorphisms and the risk of schizophrenia: an updated meta-analysis.

Bmc Medical Genetics
Liu, Yong-Ping YP; Wu, Xue X; Xia, Xi X; Yao, Jun J; Wang, Bao-Jie BJ
Publication Date: 2020-08-08

Variant appearance in text: rs4765905
PubMed Link: 32770953
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1084.pdf
View BVdb publication page



Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.

Molecular Brain
Liao, Xiaoli X; Li, Yamin Y
Publication Date: 2020-06-22

Variant appearance in text: rs4765905
PubMed Link: 32571372
Variant Present in the following documents:
  • Main text
  • 13041_2020_Article_634.pdf
View BVdb publication page



From Schizophrenia Genetics to Disease Biology: Harnessing New Concepts and Technologies.

Journal Of Psychiatry And Brain Science
Duan, Jubao J; Sanders, Alan R AR; Gejman, Pablo V PV
Publication Date: 2019

Variant appearance in text: rs4765905
PubMed Link: 31555746
Variant Present in the following documents:
  • Main text
  • nihms-1051248.pdf
View BVdb publication page



Association Study of Sequence Variants in Voltage-gated Ca2+ Channel Subunit Alpha-1C and Autism Spectrum Disorders.

Reports Of Biochemistry & Molecular Biology
Sayad, Arezou A; Ghafouri-Fard, Soudeh S; Noroozi, Rezvan R; Omrani, Mir Davood MD; Ganji, Maziar M; Dastmalchi, Romina R; Glassy, Mark M; Taheri, Mohammad M
Publication Date: 2019-04

Variant appearance in text: rs4765905
PubMed Link: 31334289
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia.

American Journal Of Human Genetics
Song, Janet H T JHT; Lowe, Craig B CB; Kingsley, David M DM
Publication Date: 2018-09-06

Variant appearance in text: rs4765905
PubMed Link: 30100087
Variant Present in the following documents:
  • Main text
View BVdb publication page



CACNA1C: Association With Psychiatric Disorders, Behavior, and Neurogenesis.

Schizophrenia Bulletin
Moon, Anna L AL; Haan, Niels N; Wilkinson, Lawrence S LS; Thomas, Kerrie L KL; Hall, Jeremy J
Publication Date: 2018-08-20

Variant appearance in text: rs4765905
PubMed Link: 29982775
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population.

Psychiatry Investigation
Fatima, Ambrin A; Farooq, Muhammad M; Abdullah, Uzma U; Tariq, Muhammad M; Mustafa, Tanveer T; Iqbal, Muhammad M; Tommerup, Niels N; Mahmood Baig, Shahid S
Publication Date: 2017-09

Variant appearance in text: rs4765905
PubMed Link: 29042896
Variant Present in the following documents:
  • Main text
  • pi-14-687.pdf
View BVdb publication page



Variants in calcium voltage-gated channel subunit Alpha1 C-gene (CACNA1C) are associated with sleep latency in infants.

Plos One
Kantojärvi, Katri K; Liuhanen, Johanna J; Saarenpää-Heikkilä, Outi O; Satomaa, Anna-Liisa AL; Kylliäinen, Anneli A; Pölkki, Pirjo P; Jaatela, Julia J; Toivola, Auli A; Milani, Lili L; Himanen, Sari-Leena SL; Porkka-Heiskanen, Tarja T; Paavonen, Juulia J; Paunio, Tiina T
Publication Date: 2017

Variant appearance in text: rs4765905
PubMed Link: 28792954
Variant Present in the following documents:
  • Main text
  • pone.0180652.pdf
View BVdb publication page



Cognitive Characterization of Schizophrenia Risk Variants Involved in Synaptic Transmission: Evidence of CACNA1C's Role in Working Memory.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Cosgrove, Donna D; Mothersill, Omar O; Kendall, Kimberley K; Konte, Bettina B; Harold, Denise D; Giegling, Ina I; Hartmann, Annette A; Richards, Alex A; Mantripragada, Kiran K; , ; Owen, Michael J MJ; O'Donovan, Michael C MC; Gill, Michael M; Rujescu, Dan D; Walters, James J; Corvin, Aiden A; Morris, Derek W DW; Donohoe, Gary G
Publication Date: 2017-12

Variant appearance in text: rs4765905
PubMed Link: 28607492
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies.

Molecular Psychiatry
Xiao, X X; Chang, H H; Li, M M
Publication Date: 2017-04

Variant appearance in text: rs4765905
PubMed Link: 28044063
Variant Present in the following documents:
  • Main text
  • mp2016241a.pdf
View BVdb publication page



Functional Characterization of Schizophrenia-Associated Variation in CACNA1C.

Plos One
Eckart, Nicole N; Song, Qifeng Q; Yang, Rebecca R; Wang, Ruihua R; Zhu, Heng H; McCallion, Andrew S AS; Avramopoulos, Dimitrios D
Publication Date: 2016

Variant appearance in text: rs4765905
PubMed Link: 27276213
Variant Present in the following documents:
  • Main text
  • pone.0157086.pdf
View BVdb publication page



CACNA1C hypermethylation is associated with bipolar disorder.

Translational Psychiatry
Starnawska, A A; Demontis, D D; Pen, A A; Hedemand, A A; Nielsen, A L AL; Staunstrup, N H NH; Grove, J J; Als, T D TD; Jarram, A A; O'Brien, N L NL; Mors, O O; McQuillin, A A; Børglum, A D AD; Nyegaard, M M
Publication Date: 2016-06-07

Variant appearance in text: rs4765905
PubMed Link: 27271857
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders.

Progress In Neurobiology
Heyes, Samuel S; Pratt, Wendy S WS; Rees, Elliott E; Dahimene, Shehrazade S; Ferron, Laurent L; Owen, Michael J MJ; Dolphin, Annette C AC
Publication Date: 2015-11

Variant appearance in text: rs4765905
PubMed Link: 26386135
Variant Present in the following documents:
  • Main text
View BVdb publication page



Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism.

Plos One
Li, Jun J; Zhao, Linnan L; You, Yang Y; Lu, Tianlan T; Jia, Meixiang M; Yu, Hao H; Ruan, Yanyan Y; Yue, Weihua W; Liu, Jing J; Lu, Lin L; Zhang, Dai D; Wang, Lifang L
Publication Date: 2015

Variant appearance in text: rs4765905
PubMed Link: 26204268
Variant Present in the following documents:
  • Main text
  • pone.0133247.pdf
View BVdb publication page



A role for noncoding variation in schizophrenia.

Cell Reports
Roussos, Panos P; Mitchell, Amanda C AC; Voloudakis, Georgios G; Fullard, John F JF; Pothula, Venu M VM; Tsang, Jonathan J; Stahl, Eli A EA; Georgakopoulos, Anastasios A; Ruderfer, Douglas M DM; Charney, Alexander A; Okada, Yukinori Y; Siminovitch, Katherine A KA; Worthington, Jane J; Padyukov, Leonid L; Klareskog, Lars L; Gregersen, Peter K PK; Plenge, Robert M RM; Raychaudhuri, Soumya S; Fromer, Menachem M; Purcell, Shaun M SM; Brennand, Kristen J KJ; Robakis, Nikolaos K NK; Schadt, Eric E EE; Akbarian, Schahram S; Sklar, Pamela P
Publication Date: 2014-11-20

Variant appearance in text: rs4765905
PubMed Link: 25453756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Calcium-dependent intracellular signal pathways in primary cultured adipocytes and ANK3 gene variation in patients with bipolar disorder and healthy controls.

Molecular Psychiatry
Hayashi, A A; Le Gal, K K; Södersten, K K; Vizlin-Hodzic, D D; Ågren, H H; Funa, K K
Publication Date: 2015-08

Variant appearance in text: rs4765905
PubMed Link: 25311363
Variant Present in the following documents:
  • mp2014104a.pdf
View BVdb publication page



Are genetic risk factors for psychosis also associated with dimension-specific psychotic experiences in adolescence?

Plos One
Sieradzka, Dominika D; Power, Robert A RA; Freeman, Daniel D; Cardno, Alastair G AG; McGuire, Philip P; Plomin, Robert R; Meaburn, Emma L EL; Dudbridge, Frank F; Ronald, Angelica A
Publication Date: 2014

Variant appearance in text: rs4765905
PubMed Link: 24718684
Variant Present in the following documents:
  • Main text
  • pone.0094398.pdf
View BVdb publication page



Neurophysiologic effect of GWAS derived schizophrenia and bipolar risk variants.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Hall, Mei-Hua MH; Levy, Deborah L DL; Salisbury, Dean F DF; Haddad, Steve S; Gallagher, Patience P; Lohan, Mary M; Cohen, Bruce B; Ongür, Dost D; Smoller, Jordan W JW
Publication Date: 2014-01

Variant appearance in text: rs4765905
PubMed Link: 24339136
Variant Present in the following documents:
  • Main text
View BVdb publication page



A population-based study of genetic variation and psychotic experiences in adolescents.

Schizophrenia Bulletin
Zammit, Stanley S; Hamshere, Marian M; Dwyer, Sarah S; Georgiva, Lyudmila L; Timpson, Nic N; Moskvina, Valentina V; Richards, Alexander A; Evans, David M DM; Lewis, Glyn G; Jones, Peter P; Owen, Michael J MJ; O'Donovan, Michael C MC
Publication Date: 2014-11

Variant appearance in text: rs4765905
PubMed Link: 24174267
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate.

Plos Genetics
Andreassen, Ole A OA; Thompson, Wesley K WK; Schork, Andrew J AJ; Ripke, Stephan S; Mattingsdal, Morten M; Kelsoe, John R JR; Kendler, Kenneth S KS; O'Donovan, Michael C MC; Rujescu, Dan D; Werge, Thomas T; Sklar, Pamela P; , ; , ; Roddey, J Cooper JC; Chen, Chi-Hua CH; McEvoy, Linda L; Desikan, Rahul S RS; Djurovic, Srdjan S; Dale, Anders M AM
Publication Date: 2013-04

Variant appearance in text: rs4765905
PubMed Link: 23637625
Variant Present in the following documents:
  • Main text
View BVdb publication page



Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study.

Bipolar Disorders
Gonzalez, Suzanne S; Xu, Chun C; Ramirez, Mercedes M; Zavala, Juan J; Armas, Regina R; Contreras, Salvador A SA; Contreras, Javier J; Dassori, Albana A; Leach, Robin J RJ; Flores, Deborah D; Jerez, Alvaro A; Raventós, Henriette H; Ontiveros, Alfonso A; Nicolini, Humberto H; Escamilla, Michael M
Publication Date: 2013-03

Variant appearance in text: rs4765905
PubMed Link: 23437964
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors.

American Journal Of Human Genetics
Andreassen, Ole A OA; Djurovic, Srdjan S; Thompson, Wesley K WK; Schork, Andrew J AJ; Kendler, Kenneth S KS; O'Donovan, Michael C MC; Rujescu, Dan D; Werge, Thomas T; van de Bunt, Martijn M; Morris, Andrew P AP; McCarthy, Mark I MI; , ; , ; , ; Roddey, J Cooper JC; McEvoy, Linda K LK; Desikan, Rahul S RS; Dale, Anders M AM
Publication Date: 2013-02-07

Variant appearance in text: rs4765905
PubMed Link: 23375658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies in psychiatry: what have we learned?

The British Journal Of Psychiatry : The Journal Of Mental Science
Collins, Ann L AL; Sullivan, Patrick F PF
Publication Date: 2013-01

Variant appearance in text: rs4765905
PubMed Link: 23284144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ankyrin 3: genetic association with bipolar disorder and relevance to disease pathophysiology.

Biology Of Mood & Anxiety Disorders
Leussis, Melanie P MP; Madison, Jon M JM; Petryshen, Tracey L TL
Publication Date: 2012-10-01

Variant appearance in text: rs4765905
PubMed Link: 23025490
Variant Present in the following documents:
  • Main text
  • 2045-5380-2-18.pdf
View BVdb publication page



Genetic architectures of psychiatric disorders: the emerging picture and its implications.

Nature Reviews. Genetics
Sullivan, Patrick F PF; Daly, Mark J MJ; O'Donovan, Michael M
Publication Date: 2012-07-10

Variant appearance in text: rs4765905
PubMed Link: 22777127
Variant Present in the following documents:
  • Main text
View BVdb publication page



CACNA1C (Cav1.2) in the pathophysiology of psychiatric disease.

Progress In Neurobiology
Bhat, Shambhu S; Dao, David T DT; Terrillion, Chantelle E CE; Arad, Michal M; Smith, Robert J RJ; Soldatov, Nikolai M NM; Gould, Todd D TD
Publication Date: 2012-10

Variant appearance in text: rs4765905
PubMed Link: 22705413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC.

Molecular Psychiatry
Hamshere, M L ML; Walters, J T R JT; Smith, R R; Richards, A L AL; Green, E E; Grozeva, D D; Jones, I I; Forty, L L; Jones, L L; Gordon-Smith, K K; Riley, B B; O'Neill, F A FA; O'Neill, T T; Kendler, K S KS; Sklar, P P; Purcell, S S; Kranz, J J; , ; , ; , ; Morris, D D; Gill, M M; Holmans, P P; Craddock, N N; Corvin, A A; Owen, M J MJ; O'Donovan, M C MC
Publication Date: 2013-06

Variant appearance in text: rs4765905
PubMed Link: 22614287
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies five new schizophrenia loci.

Nature Genetics
,
Publication Date: 2011-09-18

Variant appearance in text: rs4765905
PubMed Link: 21926974
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mood disorder susceptibility gene CACNA1C modifies mood-related behaviors in mice and interacts with sex to influence behavior in mice and diagnosis in humans.

Biological Psychiatry
Dao, David T DT; Mahon, Pamela Belmonte PB; Cai, Xiang X; Kovacsics, Colleen E CE; Blackwell, Robert A RA; Arad, Michal M; Shi, Jianxin J; Zandi, Peter P PP; O'Donnell, Patricio P; , ; Knowles, James A JA; Weissman, Myrna M MM; Coryell, William W; Scheftner, William A WA; Lawson, William B WB; Levinson, Douglas F DF; Thompson, Scott M SM; Potash, James B JB; Gould, Todd D TD
Publication Date: 2010-11-01

Variant appearance in text: rs4765905
PubMed Link: 20723887
Variant Present in the following documents:
  • Main text
View BVdb publication page