| Variant ID | 10286 |
|---|---|
| Entrez Gene ID | 2898 |
| Gene | GRIK2 (GeneCards) |
| Location | hg19 6:103290478-103290478
hg38 6:102842603-102842603 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.103290478 C>G (Genome Assembly: GRCh37) |
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8412 |
| CADD Raw score (version 1.3) | -0.455571 (Deleterious) |
| FATHMM raw prediction score | 0.04718 (Tolerated) |
| Deleterious probability by DeFine | 0.1424 (Neutral) |
| Entrez Gene ID | 2898 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRIK2 (GeneCards) |
| Number of variants in GRIK2 in this database | 35 (view all the variants) |
| Full name | glutamate ionotropic receptor kainate type subunit 2 |
| Band | 6q16.3 |
| Other IDs | Vega: OTTHUMG00000016328 OMIM: 138244 HGNC: HGNC:4580 Ensembl: ENSG00000164418 |
| Other names | EAA4, GLR6, MRT6, GLUK6, GLUR6, GlK2 |
| Summary | Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |