EGF c.1498_1499delinsCA ;(p.G500Q)

Variant ID: 4-110885616-GG-CA

NM_001963.4(EGF):c.1498_1499delinsCA;(p.G500Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Dystroglycan binding to α-neurexin competes with neurexophilin-1 and neuroligin in the brain.

The Journal Of Biological Chemistry
Reissner, Carsten C; Stahn, Johanna J; Breuer, Dorothee D; Klose, Martin M; Pohlentz, Gottfried G; Mormann, Michael M; Missler, Markus M
Publication Date: 2014-10-03

Variant appearance in text: EGF: G500Q
PubMed Link: 25157101
Variant Present in the following documents:
  • Main text
  • zbc27585.pdf
View BVdb publication page



Neurexins.

Genome Biology
Reissner, Carsten C; Runkel, Fabian F; Missler, Markus M
Publication Date: 2013

Variant appearance in text: EGF: G500Q
PubMed Link: 24083347
Variant Present in the following documents:
  • gb-2013-14-9-213.pdf
View BVdb publication page



Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Reissner, Carsten C; Klose, Martin M; Fairless, Richard R; Missler, Markus M
Publication Date: 2008-09-30

Variant appearance in text: EGF: G500Q
PubMed Link: 18812509
Variant Present in the following documents:
  • Main text
View BVdb publication page