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GRIK4

Synonyms
EAA1, GRIK, GluK4, GluK4-2, KA1
External resources
Summary
This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
7,033
Likely benign
2,297
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GRIK4 gene.

Phenotype class
Patients in 3billion (%)

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