GABRB3 c.905A>G ;(p.Y302C)

Variant ID: 15-26806254-T-C

NM_000814.5(GABRB3):c.905A>G;(p.Y302C)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


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: Y302C
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: 905A>G; Y302C
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: 905A>G; Tyr302Cys
PubMed Link: 35718920
Variant Present in the following documents:
  • EPI-63-2519-s001.xlsx, sheet 1
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: Tyr302Cys
PubMed Link: 35383156
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29280.pdf
  • 41467_2022_29280_MOESM1_ESM.pdf
  • 41467_2022_29280_MOESM3_ESM.pdf
View BVdb publication page



The temporal mutational and immune tumour microenvironment remodelling of HER2-negative primary breast cancers.

Npj Breast Cancer
De Mattos-Arruda, Leticia L; Cortes, Javier J; Blanco-Heredia, Juan J; Tiezzi, Daniel G DG; Villacampa, Guillermo G; Gonçalves-Ribeiro, Samuel S; Paré, Laia L; Souza, Carla Anjos CA; Ortega, Vanesa V; Sammut, Stephen-John SJ; Cusco, Pol P; Fasani, Roberta R; Chin, Suet-Feung SF; Perez-Garcia, Jose J; Dienstmann, Rodrigo R; Nuciforo, Paolo P; Villagrasa, Patricia P; Rubio, Isabel T IT; Prat, Aleix A; Caldas, Carlos C
Publication Date: 2021-06-07

Variant appearance in text: GABRB3: Y302C
PubMed Link: 34099718
Variant Present in the following documents:
  • 41523_2021_282_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Precision Medicine: from Molecular Diagnoses to Treatment Opportunities in Medical Genetics.

Molecular Syndromology
Poot, Martin M
Publication Date: 2021-04

Variant appearance in text: GABRB3: 905A>G; Y302C
PubMed Link: 34012375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: GABRB3: 905A>G; Y302C
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
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: Y302C
PubMed Link: 33535681
Variant Present in the following documents:
  • Main text
  • ijms-22-01457.pdf
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: Y302C
PubMed Link: 32853554
Variant Present in the following documents:
  • mmc2.xlsx, sheet 7
View BVdb publication page



Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation.

Epilepsia
Billakota, Santoshi S; Andresen, J Michael JM; Gay, Bryant C BC; Stewart, Gregory R GR; Fedorov, Nikolai B NB; Gerlach, Aaron C AC; Devinsky, Orrin O
Publication Date: 2019-12

Variant appearance in text: GABRB3: 905A>G; Y302C
PubMed Link: 31755996
Variant Present in the following documents:
  • Main text
  • EPI-60-2459.pdf
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: Y302C
PubMed Link: 30728247
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

Brain : A Journal Of Neurology
Butler, Kameryn M KM; Moody, Olivia A OA; Schuler, Elisabeth E; Coryell, Jason J; Alexander, John J JJ; Jenkins, Andrew A; Escayg, Andrew A
Publication Date: 2018-08-01

Variant appearance in text: GABRB3: Y302C
PubMed Link: 29961870
Variant Present in the following documents:
  • Main text
View BVdb publication page



A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

Plos Genetics
Zhu, Xiaolin X; Padmanabhan, Raghavendra R; Copeland, Brett B; Bridgers, Joshua J; Ren, Zhong Z; Kamalakaran, Sitharthan S; O'Driscoll-Collins, Ailbhe A; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Poduri, Annapurna A; Mei, Davide D; Guerrini, Renzo R; Lowenstein, Daniel H DH; Allen, Andrew S AS; Heinzen, Erin L EL; Goldstein, David B DB
Publication Date: 2017-11

Variant appearance in text: GABRB3: 905A>G; Tyr302Cys
PubMed Link: 29186148
Variant Present in the following documents:
  • pgen.1007104.s002.xlsx, sheet 1
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: Y302C
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: Y302C
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: Y302C
PubMed Link: 27789573
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Molecular Syndromology
Møller, Rikke S RS; Larsen, Line H G LH; Johannesen, Katrine M KM; Talvik, Inga I; Talvik, Tiina T; Vaher, Ulvi U; Miranda, Maria J MJ; Farooq, Muhammad M; Nielsen, Jens E K JE; Svendsen, Lene Lavard LL; Kjelgaard, Ditte B DB; Linnet, Karen M KM; Hao, Qin Q; Uldall, Peter P; Frangu, Mimoza M; Tommerup, Niels N; Baig, Shahid M SM; Abdullah, Uzma U; Born, Alfred P AP; Gellert, Pia P; Nikanorova, Marina M; Olofsson, Kern K; Jepsen, Birgit B; Marjanovic, Dragan D; Al-Zehhawi, Lana I K LI; Peñalva, Sofia J SJ; Krag-Olsen, Bente B; Brusgaard, Klaus K; Hjalgrim, Helle H; Rubboli, Guido G; Pal, Deb K DK; Dahl, Hans A HA
Publication Date: 2016-09

Variant appearance in text: GABRB3: 905A>G; Tyr302Cys
PubMed Link: 27781031
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: 905A>G; Tyr302Cys
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: Y302C
PubMed Link: 25124326
Variant Present in the following documents:
  • Main text
View BVdb publication page