CCN3
cellular communication network factor 3
Summary
The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1381333 | 8:120,427,596 | C/T | upstream gene variant | — |
| rs1283671061 | 8:120,428,777 | A/G | — | uncertain significance |
| rs201275451 | 8:120,428,792 | C/T | — | likely benign |
| rs35712802 | 8:120,428,816 | G/T | — | benign |
| rs2488229878 | 8:120,429,038 | C/T | — | uncertain significance |
| rs988865137 | 8:120,429,081 | G/T | — | uncertain significance |
| rs1362205190 | 8:120,429,105 | G/A | — | uncertain significance |
| rs1193189406 | 8:120,429,153 | G/A | — | uncertain significance |
| rs17856478 | 8:120,429,190 | C/A | — | conflicting classifications of pathogenicity |
| rs2488232865 | 8:120,430,319 | T/A | — | uncertain significance |
| rs1301078897 | 8:120,430,418 | G/C | — | uncertain significance |
| rs146782554 | 8:120,430,432 | C/G | — | uncertain significance |
| rs764102541 | 8:120,430,546 | G/T | — | uncertain significance |
| rs796052179 | 8:120,431,413 | C/G | — | likely benign |
| rs17791208 | 8:120,432,725 | G/T | intron variant | — |
| rs142621486 | 8:120,435,194 | G/A | — | uncertain significance |
| rs146003493 | 8:120,435,251 | G/A | — | uncertain significance |
| rs2071518 | 8:120,435,812 | C/T | 3 prime UTR variant | — |
| rs11783703 | 8:120,436,875 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.