ARRDC3
arrestin domain containing 3
Summary
This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769484237 | 5:90,667,221 | C/T | — | uncertain significance |
| rs765625079 | 5:90,667,261 | G/C | — | uncertain significance |
| rs763354083 | 5:90,667,273 | T/C | — | uncertain significance |
| rs2530868696 | 5:90,669,652 | G/A | — | uncertain significance |
| rs386352279 | 5:90,669,942 | T/C | — | uncertain significance |
| rs1582371030 | 5:90,670,772 | G/A | — | likely benign |
| rs373902781 | 5:90,670,872 | A/G | — | uncertain significance |
| rs746286312 | 5:90,670,930 | C/T | — | uncertain significance |
| rs1799280893 | 5:90,671,333 | G/T | — | uncertain significance |
| rs2530873067 | 5:90,671,381 | G/A | — | uncertain significance |
| rs34152201 | 5:90,672,495 | T/C | — | benign |
| rs2530876579 | 5:90,672,515 | G/A | — | uncertain significance |
| rs377260429 | 5:90,672,544 | C/T | — | uncertain significance |
| rs147788981 | 5:90,674,562 | G/A | — | uncertain significance |
| rs780018247 | 5:90,678,840 | A/G | — | uncertain significance |
| rs139441768 | 5:90,679,263 | T/C | regulatory region variant | — |
| rs11948075 | 5:90,680,579 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.