GABRB3 c.358G>A ;(p.D120N)

Variant ID: 15-26866564-C-T

NM_000814.5(GABRB3):c.358G>A;(p.D120N)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GABRB3: 358G>A; Asp120Asn
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype.

International Journal Of Molecular Sciences
Nwosu, Gerald G; Reddy, Shilpa B SB; Riordan, Heather Rose Mead HRM; Kang, Jing-Qiong JQ
Publication Date: 2022-08-26

Variant appearance in text: GABRB3: D120N
PubMed Link: 36077081
Variant Present in the following documents:
  • Main text
  • ijms-23-09683.pdf
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GABRB3: 358G>A; D120N
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Epilepsia
Maillard, Pierre-Yves PY; Baer, Sarah S; Schaefer, Élise É; Desnous, Béatrice B; Villeneuve, Nathalie N; Lépine, Anne A; Fabre, Alexandre A; Lacoste, Caroline C; El Chehadeh, Salima S; Piton, Amélie A; Porter, Louise Frances LF; Perriard, Caroline C; Wardé, Marie-Thérèse Abi MA; Spitz, Marie-Aude MA; Laugel, Vincent V; Lesca, Gaëtan G; Putoux, Audrey A; Ville, Dorothée D; Mignot, Cyril C; Héron, Delphine D; Nabbout, Rima R; Barcia, Giulia G; Rio, Marlène M; Roubertie, Agathe A; Meyer, Pierre P; Paquis-Flucklinger, Véronique V; Patat, Olivier O; Lefranc, Jérémie J; Gerard, Marion M; , ; de Bellescize, Julietta J; Villard, Laurent L; De Saint Martin, Anne A; Milh, Mathieu M
Publication Date: 2022-10

Variant appearance in text: GABRB3: 358G>A
PubMed Link: 35718920
Variant Present in the following documents:
  • Main text
  • EPI-63-2519-s001.xlsx, sheet 4
  • EPI-63-2519-s001.xlsx, sheet 1
  • EPI-63-2519.pdf
View BVdb publication page



Pharmacological activation of ATF6 remodels the proteostasis network to rescue pathogenic GABAA receptors.

Cell & Bioscience
Wang, Meng M; Cotter, Edmund E; Wang, Ya-Juan YJ; Fu, Xu X; Whittsette, Angela L AL; Lynch, Joseph W JW; Wiseman, R Luke RL; Kelly, Jeffery W JW; Keramidas, Angelo A; Mu, Ting-Wei TW
Publication Date: 2022-04-27

Variant appearance in text: GABRB3: D120N
PubMed Link: 35477478
Variant Present in the following documents:
  • Main text
  • 13578_2022_Article_783.pdf
View BVdb publication page



Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Nature Communications
Absalom, Nathan L NL; Liao, Vivian W Y VWY; Johannesen, Katrine M H KMH; Gardella, Elena E; Jacobs, Julia J; Lesca, Gaetan G; Gokce-Samar, Zeynep Z; Arzimanoglou, Alexis A; Zeidler, Shimriet S; Striano, Pasquale P; Meyer, Pierre P; Benkel-Herrenbrueck, Ira I; Mero, Inger-Lise IL; Rummel, Jutta J; Chebib, Mary M; Møller, Rikke S RS; Ahring, Philip K PK
Publication Date: 2022-04-05

Variant appearance in text: GABRB3: Asp120Asn
PubMed Link: 35383156
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29280.pdf
  • 41467_2022_29280_MOESM1_ESM.pdf
View BVdb publication page



Intricacies of GABAA Receptor Function: The Critical Role of the β3 Subunit in Norm and Pathology.

International Journal Of Molecular Sciences
Menzikov, Sergey A SA; Morozov, Sergey G SG; Kubatiev, Aslan A AA
Publication Date: 2021-02-01

Variant appearance in text: GABRB3: D120N
PubMed Link: 33535681
Variant Present in the following documents:
  • Main text
  • ijms-22-01457.pdf
View BVdb publication page



Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy.

Neurobiology Of Disease
Wang, Wanqi W; Frankel, Wayne N WN
Publication Date: 2021-01

Variant appearance in text: GABRB3: D120N
PubMed Link: 33301879
Variant Present in the following documents:
  • Main text
  • nihms-1652681.pdf
View BVdb publication page



Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature Communications
Wang, Tianyun T; Hoekzema, Kendra K; Vecchio, Davide D; Wu, Huidan H; Sulovari, Arvis A; Coe, Bradley P BP; Gillentine, Madelyn A MA; Wilfert, Amy B AB; Perez-Jurado, Luis A LA; Kvarnung, Malin M; Sleyp, Yoeri Y; Earl, Rachel K RK; Rosenfeld, Jill A JA; Geisheker, Madeleine R MR; Han, Lin L; Du, Bing B; Barnett, Chris C; Thompson, Elizabeth E; Shaw, Marie M; Carroll, Renee R; Friend, Kathryn K; Catford, Rachael R; Palmer, Elizabeth E EE; Zou, Xiaobing X; Ou, Jianjun J; Li, Honghui H; Guo, Hui H; Gerdts, Jennifer J; Avola, Emanuela E; Calabrese, Giuseppe G; Elia, Maurizio M; Greco, Donatella D; Lindstrand, Anna A; Nordgren, Ann A; Anderlid, Britt-Marie BM; Vandeweyer, Geert G; Van Dijck, Anke A; Van der Aa, Nathalie N; McKenna, Brooke B; Hancarova, Miroslava M; Bendova, Sarka S; Havlovicova, Marketa M; Malerba, Giovanni G; Bernardina, Bernardo Dalla BD; Muglia, Pierandrea P; van Haeringen, Arie A; Hoffer, Mariette J V MJV; Franke, Barbara B; Cappuccio, Gerarda G; Delatycki, Martin M; Lockhart, Paul J PJ; Manning, Melanie A MA; Liu, Pengfei P; Scheffer, Ingrid E IE; Brunetti-Pierri, Nicola N; Rommelse, Nanda N; Amaral, David G DG; Santen, Gijs W E GWE; Trabetti, Elisabetta E; Sedláček, Zdeněk Z; Michaelson, Jacob J JJ; Pierce, Karen K; Courchesne, Eric E; Kooy, R Frank RF; , ; Nordenskjöld, Magnus M; Romano, Corrado C; Peeters, Hilde H; Bernier, Raphael A RA; Gecz, Jozef J; Xia, Kun K; Eichler, Evan E EE
Publication Date: 2020-10-01

Variant appearance in text: GABRB3: 358G>A; Asp120Asn
PubMed Link: 33004838
Variant Present in the following documents:
  • 41467_2020_18723_MOESM7_ESM.xlsx, sheet 1
  • 41467_2020_18723_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

American Journal Of Human Genetics
Galer, Peter D PD; Ganesan, Shiva S; Lewis-Smith, David D; McKeown, Sarah E SE; Pendziwiat, Manuela M; Helbig, Katherine L KL; Ellis, Colin A CA; Rademacher, Annika A; Smith, Lacey L; Poduri, Annapurna A; Seiffert, Simone S; von Spiczak, Sarah S; Muhle, Hiltrud H; van Baalen, Andreas A; , ; , ; , ; , ; Thomas, Rhys H RH; Krause, Roland R; Weber, Yvonne Y; Helbig, Ingo I
Publication Date: 2020-10-01

Variant appearance in text: GABRB3: D120N; rs886037938
PubMed Link: 32853554
Variant Present in the following documents:
  • mmc2.xlsx, sheet 7
View BVdb publication page



Functional genomics of epilepsy-associated mutations in the GABAA receptor subunits reveal that one mutation impairs function and two are catastrophic.

The Journal Of Biological Chemistry
Absalom, Nathan L NL; Ahring, Philip K PK; Liao, Vivian W VW; Balle, Thomas T; Jiang, Tian T; Anderson, Lyndsey L LL; Arnold, Jonathon C JC; McGregor, Iain S IS; Bowen, Michael T MT; Chebib, Mary M
Publication Date: 2019-04-12

Variant appearance in text: GABRB3: D120N
PubMed Link: 30728247
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent PDGFRB mutations in unicentric Castleman disease.

Leukemia
Li, Zhaoming Z; Lan, Xuan X; Li, Chaoping C; Zhang, Yanjie Y; Wang, Yingjun Y; Xue, Weili W; Lu, Lisha L; Jin, Mengyuan M; Zhou, Zhiyuan Z; Wang, Xinhua X; Li, Ling L; Zhang, Lei L; Li, Xin X; Fu, Xiaorui X; Sun, Zhenchang Z; Wu, Jingjing J; Zhang, Xudong X; Yu, Hui H; Nan, Feifei F; Chang, Yu Y; Yan, Jiaqin J; Wu, Xiaolong X; Wang, Guannan G; Zhang, Dandan D; Zhang, Yuan Y; Young, Ken H KH; Zhang, Mingzhi M
Publication Date: 2019-04

Variant appearance in text: GABRB3: D120N
PubMed Link: 30607019
Variant Present in the following documents:
  • 41375_2018_323_MOESM5_ESM.xls, sheet 2
View BVdb publication page



Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08

Variant appearance in text: GABRB3: D120N
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology
Møller, Rikke S RS; Wuttke, Thomas V TV; Helbig, Ingo I; Marini, Carla C; Johannesen, Katrine M KM; Brilstra, Eva H EH; Vaher, Ulvi U; Borggraefe, Ingo I; Talvik, Inga I; Talvik, Tiina T; Kluger, Gerhard G; Francois, Laurence L LL; Lesca, Gaetan G; de Bellescize, Julitta J; Blichfeldt, Susanne S; Chatron, Nicolas N; Holert, Nils N; Jacobs, Julia J; Swinkels, Marielle M; Betzler, Cornelia C; Syrbe, Steffen S; Nikanorova, Marina M; Myers, Candace T CT; Larsen, Line H G LH; Vejzovic, Sabina S; Pendziwiat, Manuela M; von Spiczak, Sarah S; Hopkins, Sarah S; Dubbs, Holly H; Mang, Yuan Y; Mukhin, Konstantin K; Holthausen, Hans H; van Gassen, Koen L KL; Dahl, Hans A HA; Tommerup, Niels N; Mefford, Heather C HC; Rubboli, Guido G; Guerrini, Renzo R; Lemke, Johannes R JR; Lerche, Holger H; Muhle, Hiltrud H; Maljevic, Snezana S
Publication Date: 2017-01-31

Variant appearance in text: GABRB3: D120N
PubMed Link: 28053010
Variant Present in the following documents:
  • Main text
View BVdb publication page



A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

Journal Of Medical Genetics
Ishii, Atsushi A; Kang, Jing-Qiong JQ; Schornak, Cara C CC; Hernandez, Ciria C CC; Shen, Wangzhen W; Watkins, Joseph C JC; Macdonald, Robert L RL; Hirose, Shinichi S
Publication Date: 2017-03

Variant appearance in text: GABRB3: D120N
PubMed Link: 27789573
Variant Present in the following documents:
  • Main text
View BVdb publication page



De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

American Journal Of Human Genetics
,
Publication Date: 2016-08-04

Variant appearance in text: GABRB3: 358G>A; Asp120Asn
PubMed Link: 27476654
Variant Present in the following documents:
  • Main text
View BVdb publication page



GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

Developmental Medicine And Child Neurology
Papandreou, Apostolos A; McTague, Amy A; Trump, Natalie N; Ambegaonkar, Gautam G; Ngoh, Adeline A; Meyer, Esther E; Scott, Richard H RH; Kurian, Manju A MA
Publication Date: 2016-04

Variant appearance in text: GABRB3: 358G>A
PubMed Link: 26645412
Variant Present in the following documents:
  • Main text
  • DMCN-58-416.pdf
View BVdb publication page



A novel variant in GABRB2 associated with intellectual disability and epilepsy.

American Journal Of Medical Genetics. Part A
Srivastava, Siddharth S; Cohen, Julie J; Pevsner, Jonathan J; Aradhya, Swaroop S; McKnight, Dianalee D; Butler, Elizabeth E; Johnston, Michael M; Fatemi, Ali A
Publication Date: 2014-11

Variant appearance in text: GABRB3: D120N
PubMed Link: 25124326
Variant Present in the following documents:
  • Main text
View BVdb publication page