GABRG2 c.1027T>C ;(p.F343L)

Variant ID: 5-161576218-T-C

NM_198904.2(GABRG2):c.1027T>C;(p.F343L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


GABRG2 Variants Associated with Febrile Seizures.

Biomolecules
Hernandez, Ciria C CC; Shen, Yanwen Y; Hu, Ningning N; Shen, Wangzhen W; Narayanan, Vinodh V; Ramsey, Keri K; He, Wen W; Zou, Liping L; Macdonald, Robert L RL
Publication Date: 2023-02-22

Variant appearance in text: GABRG2: F343L
PubMed Link: 36979350
Variant Present in the following documents:
  • biomolecules-13-00414.pdf
View BVdb publication page



Identification of microsatellite instability and immune-related prognostic biomarkers in colon adenocarcinoma.

Frontiers In Immunology
Sun, Ziquan Z; Li, Guodong G; Shang, Desi D; Zhang, Jinning J; Ai, Lianjie L; Liu, Ming M
Publication Date: 2022

Variant appearance in text: GABRG2: F343L
PubMed Link: 36275690
Variant Present in the following documents:
  • fimmu-13-988303.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: GABRG2: 1027T>C; F343L
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: GABRG2: 1027T>C
PubMed Link: 35718920
Variant Present in the following documents:
  • EPI-63-2519-s001.xlsx, sheet 1
View BVdb publication page



Missense Is No Nonsense for Epileptic Encephalopathies.

Epilepsy Currents
Pirone, Antonella A; Dulla, Chris C
Publication Date: 2017

Variant appearance in text: GABRG2: F343L
PubMed Link: 28684954
Variant Present in the following documents:
  • Main text
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: GABRG2: F343L
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo GABRG2 mutations associated with epileptic encephalopathies.

Brain : A Journal Of Neurology
Shen, Dingding D; Hernandez, Ciria C CC; Shen, Wangzhen W; Hu, Ningning N; Poduri, Annapurna A; Shiedley, Beth B; Rotenberg, Alex A; Datta, Alexandre N AN; Leiz, Steffen S; Patzer, Steffi S; Boor, Rainer R; Ramsey, Kerri K; Goldberg, Ethan E; Helbig, Ingo I; Ortiz-Gonzalez, Xilma R XR; Lemke, Johannes R JR; Marsh, Eric D ED; Macdonald, Robert L RL
Publication Date: 2017-01

Variant appearance in text: GABRG2: 1027T>C; F343L
PubMed Link: 27864268
Variant Present in the following documents:
  • Main text
View BVdb publication page