AGBL2 c.2449-244A>G

Variant ID: 11-47684908-T-C

NM_024783.3(AGBL2):c.2449-244A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs11039329
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.

Embo Molecular Medicine
Kröll-Hermi, Ariane A; Ebstein, Frédéric F; Stoetzel, Corinne C; Geoffroy, Véronique V; Schaefer, Elise E; Scheidecker, Sophie S; Bär, Séverine S; Takamiya, Masanari M; Kawakami, Koichi K; Zieba, Barbara A BA; Studer, Fouzia F; Pelletier, Valerie V; Eyermann, Carine C; Speeg-Schatz, Claude C; Laugel, Vincent V; Lipsker, Dan D; Sandron, Florian F; McGinn, Steven S; Boland, Anne A; Deleuze, Jean-François JF; Kuhn, Lauriane L; Chicher, Johana J; Hammann, Philippe P; Friant, Sylvie S; Etard, Christelle C; Krüger, Elke E; Muller, Jean J; Strähle, Uwe U; Dollfus, Hélène H
Publication Date: 2020-07-07

Variant appearance in text: rs11039329
PubMed Link: 32500975
Variant Present in the following documents:
  • EMMM-12-e11861-s001.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: AGBL2: 2449-244A>G; rs11039329
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page