| Entrez Gene ID | 8997 |
|---|---|
| Official Gene Symbol | KALRN (GeneCards) |
| Full name | kalirin RhoGEF kinase |
| Location | 3q21.1-q21.2 |
| Other ids | Vega : OTTHUMG00000125545 MIM : 604605 HGNC : HGNC:4814 Ensembl : ENSG00000160145 |
| Other names | DUO, CHD5, DUET, TRAD, CHDS5, HAPIP, ARHGEF24 |
| Summary | Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016] |
Found 9 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 858 | 8997 | KALRN | 3 | 124209585 | 124209585 | Human Skin Fibroblasts | HiSeq 2500 |
| 4615 | 8997 | KALRN | 3 | 123972640 | 123972640 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 4808 | 8997 | KALRN | 3 | 123963500 | 123963500 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 4849 | 8997 | KALRN | 3 | 123938221 | 123938221 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 5881 | 8997 | KALRN | 3 | 124147340 | 124147340 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |
| 22695 | 8997 | KALRN | 3 | 124246470 | 124246470 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25276 | 8997 | KALRN | 3 | 124413262 | 124413262 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 34322 | 8997 | KALRN | 3 | 123837499 | 123837499 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing |
| 34323 | 8997 | KALRN | 3 | 124243596 | 124243596 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing |