| Variant ID | 17957 |
|---|---|
| Entrez Gene ID | 8660 |
| Gene | IRS2 (GeneCards) |
| Location | hg19 13:110492648-110492648
hg38 13:109840301-109840301 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.110492648 T>C (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1208 |
| CADD Raw score (version 1.3) | -0.206608 (Deleterious) |
| FATHMM raw prediction score | 0.15178 (Tolerated) |
| Deleterious probability by DeFine | 0.5623 (Deleterious) |
| Entrez Gene ID | 8660 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IRS2 (GeneCards) |
| Number of variants in IRS2 in this database | 2 (view all the variants) |
| Full name | insulin receptor substrate 2 |
| Band | 13q34 |
| Other IDs | Vega: OTTHUMG00000017338 OMIM: 600797 HGNC: HGNC:6126 Ensembl: ENSG00000185950 |
| Other names | IRS-2 |
| Summary | This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [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; |