CHRNB2 c.923T>C ;(p.V308A)

Variant ID: 1-154544222-T-C

NM_000748.2(CHRNB2):c.923T>C;(p.V308A)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24

Variant appearance in text: CHRNB2: 923T>C; Val308Ala
PubMed Link: 36865150
Variant Present in the following documents:
  • media-2.xlsx, sheet 9
View BVdb publication page



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: CHRNB2: 923T>C; Val308Ala
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Cholinergic Signaling, Neural Excitability, and Epilepsy.

Molecules (Basel, Switzerland)
Wang, Yu Y; Tan, Bei B; Wang, Yi Y; Chen, Zhong Z
Publication Date: 2021-04-13

Variant appearance in text: CHRNB2: V308A
PubMed Link: 33924731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: CHRNB2: 923T>C; Val308Ala
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.

Molecular Genetics & Genomic Medicine
Sanchis-Juan, Alba A; Hasenahuer, Marcia A MA; Baker, James A JA; McTague, Amy A; Barwick, Katy K; Kurian, Manju A MA; Duarte, Sofia T ST; , ; Carss, Keren J KJ; Thornton, Janet J; Raymond, F Lucy FL
Publication Date: 2020-07

Variant appearance in text: CHRNB2: Val308Ala; rs281865070
PubMed Link: 32347641
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1106.pdf
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: CHRNB2: 923T>C; Val308Ala
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page



ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics
Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF
Publication Date: 2017-08

Variant appearance in text: CHRNB2: 923T>C; V308A
PubMed Link: 28717674
Variant Present in the following documents:
  • supp_3.4.e163_Table_e-1.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: CHRNB2: V308A
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy.

International Journal Of Clinical And Experimental Medicine
Chen, Zhihong Z; Wang, Lingan L; Wang, Chun C; Chen, Qian Q; Zhai, Qiongxiang Q; Guo, Yuxiong Y; Zhang, Yuxin Y
Publication Date: 2015

Variant appearance in text: CHRNB2: V308A
PubMed Link: 26309560
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuronal nicotinic receptors in sleep-related epilepsy: studies in integrative biology.

Isrn Biochemistry
Becchetti, Andrea A
Publication Date: 2012

Variant appearance in text: CHRNB2: V308A
PubMed Link: 25969754
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.

Frontiers In Physiology
Becchetti, Andrea A; Aracri, Patrizia P; Meneghini, Simone S; Brusco, Simone S; Amadeo, Alida A
Publication Date: 2015

Variant appearance in text: CHRNB2: V308A
PubMed Link: 25717303
Variant Present in the following documents:
  • Main text
  • fphys-06-00022.pdf
View BVdb publication page