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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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