Entrez Gene ID | 389207 |
---|---|
Official Gene Symbol | GRXCR1 (GeneCards) |
Full name | glutaredoxin and cysteine rich domain containing 1 |
Location | 4p13 |
Other ids | Vega : OTTHUMG00000160434 MIM : 613283 HGNC : HGNC:31673 Ensembl : ENSG00000215203 |
Other names | DFNB25, PPP1R88 |
Summary | This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010] |
Found 15 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
6009 | 389207 | GRXCR1 | 4 | 43247162 | 43247162 | Asymptomatic | HiSeq X Ten |
6249 | 389207 | GRXCR1 | 4 | 43124654 | 43124654 | Asymptomatic | HiSeq X Ten |
6747 | 389207 | GRXCR1 | 4 | 44065797 | 44065797 | Asymptomatic | HiSeq X Ten |
6775 | 389207 | GRXCR1 | 4 | 43321785 | 43321785 | Asymptomatic | HiSeq X Ten |
6850 | 389207 | GRXCR1 | 4 | 43309605 | 43309605 | Asymptomatic | HiSeq X Ten |
6878 | 389207 | GRXCR1 | 4 | 44032746 | 44032746 | Asymptomatic | HiSeq X Ten |
6895 | 389207 | GRXCR1 | 4 | 43085877 | 43085877 | Asymptomatic | HiSeq X Ten |
7107 | 389207 | GRXCR1 | 4 | 42937931 | 42937931 | Cockayne syndrome | HiSeq X Ten |
7202 | 389207 | GRXCR1 | 4 | 43183609 | 43183609 | Cockayne syndrome | HiSeq X Ten |
7419 | 389207 | GRXCR1 | 4 | 43409086 | 43409086 | Xeroderma Pigmentosum | HiSeq X Ten |
7454 | 389207 | GRXCR1 | 4 | 43025744 | 43025744 | Xeroderma Pigmentosum | HiSeq X Ten |
25481 | 389207 | GRXCR1 | 4 | 42995450 | 42995450 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
25482 | 389207 | GRXCR1 | 4 | 42995451 | 42995451 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
25628 | 389207 | GRXCR1 | 4 | 43179804 | 43179804 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
25746 | 389207 | GRXCR1 | 4 | 42988897 | 42988897 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |