CHIC2
cysteine rich hydrophobic domain 2
Summary
This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372598321 | 4:54,876,307 | G/C | — | uncertain significance |
| rs150857189 | 4:54,880,063 | G/A | — | likely benign |
| rs777419410 | 4:54,915,126 | T/C | — | uncertain significance |
| rs377692827 | 4:54,915,282 | A/G | — | likely benign |
| rs2475405652 | 4:54,930,409 | T/G | — | uncertain significance |
| rs2475405710 | 4:54,930,421 | C/T | — | uncertain significance |
| rs2412522 | 4:54,938,543 | A/G | upstream gene variant | — |
| rs189378943 | 4:54,957,621 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.