S100A3
S100 calcium binding protein A3
Summary
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs571596892 | 1:153,520,175 | G/A | — | uncertain significance |
| rs750071857 | 1:153,520,186 | C/A | — | uncertain significance |
| rs1665608008 | 1:153,520,194 | G/C | — | uncertain significance |
| rs138355706 | 1:153,520,235 | G/A | — | benign |
| rs116208483 | 1:153,520,280 | G/C | — | likely benign |
| rs148342748 | 1:153,520,297 | T/C | — | uncertain significance |
| rs756696245 | 1:153,520,309 | T/C | — | uncertain significance |
| rs79576027 | 1:153,520,321 | G/C | — | uncertain significance |
| rs78031781 | 1:153,520,513 | C/T | upstream gene variant | — |
| rs56350425 | 1:153,520,520 | T/C | upstream gene variant | — |
| rs762900643 | 1:153,520,904 | C/T | — | uncertain significance |
| rs200355997 | 1:153,520,925 | C/A | — | uncertain significance |
| rs193921084 | 1:153,520,937 | C/A | — | uncertain significance |
| rs776210052 | 1:153,520,939 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.