APCS
amyloid P component, serum
Summary
The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11545897 | 1:159,557,721 | C/T | missense variant | — |
| rs2525455017 | 1:159,557,930 | T/C | — | uncertain significance |
| rs148924046 | 1:159,557,948 | T/G | — | uncertain significance |
| rs138308518 | 1:159,557,957 | C/T | — | uncertain significance |
| rs145110984 | 1:159,557,959 | C/T | — | likely benign |
| rs767855061 | 1:159,558,001 | T/C | — | uncertain significance |
| rs1658806382 | 1:159,558,046 | C/G | — | uncertain significance |
| rs749791612 | 1:159,558,098 | G/C | — | uncertain significance |
| rs1658810248 | 1:159,558,157 | G/C | — | uncertain significance |
| rs754687176 | 1:159,558,163 | A/T | — | uncertain significance |
| rs200788109 | 1:159,558,164 | T/A | — | uncertain significance |
| rs199934882 | 1:159,558,227 | T/C | — | uncertain significance |
| rs1364170220 | 1:159,558,256 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.