LHX2
LIM homeobox 2
Summary
This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1407632691 | 9:126,774,688 | A/G | — | uncertain significance |
| rs1859108494 | 9:126,774,699 | C/G | — | uncertain significance |
| rs757223404 | 9:126,774,739 | A/G | — | uncertain significance |
| rs7873029 | 9:126,776,123 | C/T | regulatory region variant | — |
| rs780690752 | 9:126,776,252 | A/G | — | uncertain significance |
| rs144291200 | 9:126,776,410 | C/T | — | likely benign |
| rs2540148631 | 9:126,777,417 | C/A | — | uncertain significance |
| rs370825161 | 9:126,777,428 | C/T | — | likely benign |
| rs375687666 | 9:126,777,584 | C/A | — | uncertain significance |
| rs1178079328 | 9:126,777,655 | C/T | — | uncertain significance |
| rs1859167678 | 9:126,777,658 | C/G | — | uncertain significance |
| rs1378909150 | 9:126,777,660 | G/C | — | uncertain significance |
| rs189601606 | 9:126,777,726 | G/A | — | benign |
| rs1328709712 | 9:126,777,781 | C/T | — | uncertain significance |
| rs560527359 | 9:126,783,378 | C/T | — | uncertain significance |
| rs1303464139 | 9:126,783,392 | G/A | — | uncertain significance |
| rs61734362 | 9:126,783,415 | C/T | — | benign |
| rs140229756 | 9:126,783,426 | C/A | — | likely benign |
| rs2075064 | 9:126,783,847 | C/T | intron variant | — |
| rs917783 | 9:126,790,607 | A/C | downstream gene variant | — |
| rs138022431 | 9:126,794,782 | G/C | — | likely benign |
| rs2540163610 | 9:126,794,814 | C/T | — | uncertain significance |
| rs1247793396 | 9:126,794,962 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.