| Variant ID | 8992 |
|---|---|
| Entrez Gene ID | 6196 |
| Gene | RPS6KA2 (GeneCards) |
| Location | hg19 6:167219369-167219369
hg38 6:166805881-166805881 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.167219369 C>T (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 | -0.7857 |
| CADD Raw score (version 1.3) | -0.676395 (Deleterious) |
| FATHMM raw prediction score | 0.0405 (Tolerated) |
| Deleterious probability by DeFine | 0.224 (Neutral) |
| Entrez Gene ID | 6196 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RPS6KA2 (GeneCards) |
| Number of variants in RPS6KA2 in this database | 7 (view all the variants) |
| Full name | ribosomal protein S6 kinase A2 |
| Band | 6q27 |
| Other IDs | Vega: OTTHUMG00000016007 OMIM: 601685 HGNC: HGNC:10431 Ensembl: ENSG00000071242 |
| Other names | RSK, HU-2, RSK3, p90RSK2, p90-RSK3, pp90RSK3, MAPKAPK1C, S6K-alpha, S6K-alpha2 |
| Summary | This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |