DOC2B
double C2 domain beta
Summary
There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7219997 | 17:4,219 | T/G | regulatory region variant | — |
| rs759735295 | 17:6,051 | C/T | — | uncertain significance |
| rs534710868 | 17:10,481 | C/G | — | likely benign |
| rs370103166 | 17:11,247 | G/A | — | uncertain significance |
| rs1006027225 | 17:11,271 | G/A | — | uncertain significance |
| rs977032944 | 17:11,303 | C/T | — | uncertain significance |
| rs1555523243 | 17:11,316 | C/T | — | uncertain significance |
| rs369343321 | 17:11,884 | C/T | — | uncertain significance |
| rs1043861462 | 17:11,934 | T/C | — | likely benign |
| rs866148478 | 17:11,953 | C/T | — | uncertain significance |
| rs1258862687 | 17:13,973 | T/C | — | uncertain significance |
| rs949527608 | 17:13,983 | T/C | — | uncertain significance |
| rs1555523624 | 17:13,985 | G/A | — | uncertain significance |
| rs2040324376 | 17:22,338 | G/A | — | uncertain significance |
| rs972023376 | 17:22,345 | T/C | — | uncertain significance |
| rs2543507746 | 17:22,384 | T/C | — | uncertain significance |
| rs1340105324 | 17:30,905 | G/T | — | uncertain significance |
| rs1276987024 | 17:31,033 | C/G | — | uncertain significance |
| rs2040440160 | 17:31,102 | C/G | — | uncertain significance |
| rs1005004998 | 17:31,108 | G/T | — | uncertain significance |
| rs1471949149 | 17:31,138 | G/A | — | uncertain significance |
| rs2040441019 | 17:31,156 | G/T | — | uncertain significance |
| rs1028901711 | 17:31,160 | G/C | — | uncertain significance |
| rs920196084 | 17:31,236 | A/T | — | uncertain significance |
| rs931535608 | 17:31,237 | T/G | — | uncertain significance |
| rs8069133 | 17:32,311 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.