Entrez Gene ID | 116093 |
---|---|
Official Gene Symbol | DIRC1 (GeneCards) |
Full name | disrupted in renal carcinoma 1 |
Location | 2q32.2 |
Other ids | Vega : OTTHUMG00000132646 MIM : 606423 HGNC : HGNC:15760 Ensembl : ENSG00000174325 |
Other names | None |
Summary | This gene consists of two exons and encodes a 104aa protein. Disruption of this gene by translocation t(2;3)(q33;q21) is associated with familial clear cell renal cancer. [provided by RefSeq, Sep 2010] |
Found 5 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
3453 | 116093 | DIRC1 | 2 | 189664370 | 189664370 | Asymptomatic | HiSeq X Ten |
3563 | 116093 | DIRC1 | 2 | 189781596 | 189781596 | HiSeq X Ten | |
4257 | 116093 | DIRC1 | 2 | 189809298 | 189809298 | Cockayne syndrome | HiSeq X Ten |
24934 | 116093 | DIRC1 | 2 | 189753019 | 189753019 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
25001 | 116093 | DIRC1 | 2 | 189702441 | 189702441 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |