MosaicBase

Exon or Intron	NA
Position in protein	NA
Amino acid changes in protein	NA > NA
Position in cDNA	NA
Changes in cDNA	NA > NA
mRNA accession	NA
mRNA length	NA
Reference length	191154276

MAF in gnomAD genome (version 2.0.1)	0
EIGEN score	0.0133
CADD Raw score (version 1.3)	0.039666 (Deleterious)
FATHMM raw prediction score	0.13006 (Tolerated)
Deleterious probability by DeFine	0.673 (Deleterious)

Entrez Gene ID	2895 (NCBI Gene)
Official Gene Symbol	GRID2 (GeneCards)
Number of variants in GRID2 in this database	14 (view all the variants)
Full name	glutamate ionotropic receptor delta type subunit 2
Band	4q22.1-q22.2
Other IDs	Vega: OTTHUMG00000130975 OMIM: 602368 HGNC: HGNC:4576 Ensembl: ENSG00000152208
Other names	GlD2, SCAR18
Summary	The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]

Pubmed ID	29217584
Title	Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal	Science
Publication date	2018.02
Disease	Cockayne syndrome Xeroderma Pigmentosum
Number of cases	Male cases: 3; Female cases: 6; cases of unknown sex: 15;