PSD
pleckstrin and Sec7 domain containing
Summary
This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751519929 | 10:104,162,971 | G/A | — | uncertain significance |
| rs150754401 | 10:104,162,991 | C/T | — | benign |
| rs201058335 | 10:104,163,009 | C/G | — | uncertain significance |
| rs199848894 | 10:104,163,018 | C/T | — | uncertain significance |
| rs201643069 | 10:104,163,019 | G/C | — | uncertain significance |
| rs1447344393 | 10:104,163,070 | G/A | — | uncertain significance |
| rs368823751 | 10:104,163,082 | C/T | — | uncertain significance |
| rs371797859 | 10:104,163,091 | C/T | — | uncertain significance |
| rs1458850612 | 10:104,163,160 | G/C | — | uncertain significance |
| rs1041729216 | 10:104,163,654 | C/T | — | uncertain significance |
| rs763168055 | 10:104,163,673 | C/T | — | uncertain significance |
| rs146615059 | 10:104,163,729 | C/T | — | likely benign |
| rs760611970 | 10:104,163,730 | G/C | — | uncertain significance |
| rs181250655 | 10:104,163,747 | C/T | — | likely benign |
| rs374100138 | 10:104,164,360 | C/A | — | uncertain significance |
| rs2061338687 | 10:104,164,375 | G/A | — | uncertain significance |
| rs1397406971 | 10:104,164,676 | C/T | — | uncertain significance |
| rs778627581 | 10:104,164,821 | G/A | — | likely benign |
| rs1227075825 | 10:104,165,004 | C/T | — | uncertain significance |
| rs199685251 | 10:104,165,124 | C/T | — | uncertain significance |
| rs2061348649 | 10:104,165,144 | G/A | — | uncertain significance |
| rs773125122 | 10:104,165,178 | G/A | — | uncertain significance |
| rs753668043 | 10:104,165,195 | G/T | — | uncertain significance |
| rs376274284 | 10:104,165,228 | C/G | — | uncertain significance |
| rs1302761895 | 10:104,170,666 | C/T | — | likely benign |
| rs12254663 | 10:104,170,841 | G/A | — | benign |
| rs35284232 | 10:104,170,866 | G/A | — | likely benign |
| rs55970842 | 10:104,171,094 | C/A | intron variant | — |
| rs145791657 | 10:104,171,984 | G/A | — | likely benign |
| rs2544633262 | 10:104,172,163 | C/T | — | uncertain significance |
| rs201338614 | 10:104,172,274 | G/A | — | uncertain significance |
| rs774777615 | 10:104,173,710 | C/T | — | uncertain significance |
| rs781188243 | 10:104,173,719 | C/G | — | uncertain significance |
| rs749478479 | 10:104,173,742 | G/A | — | uncertain significance |
| rs146551533 | 10:104,173,904 | G/A | — | uncertain significance |
| rs752927179 | 10:104,173,923 | C/A | — | uncertain significance |
| rs148030005 | 10:104,173,943 | C/T | — | uncertain significance |
| rs142774221 | 10:104,174,722 | G/A | — | uncertain significance |
| rs150603372 | 10:104,174,738 | C/T | — | benign |
| rs768556128 | 10:104,174,846 | C/T | — | uncertain significance |
| rs370495305 | 10:104,174,899 | T/C | — | uncertain significance |
| rs145514167 | 10:104,174,919 | C/T | — | likely benign |
| rs571611854 | 10:104,174,959 | G/T | — | uncertain significance |
| rs779749956 | 10:104,174,970 | C/T | — | likely benign |
| rs79931565 | 10:104,175,649 | A/G | upstream gene variant | — |
| rs2544639487 | 10:104,175,780 | T/G | — | uncertain significance |
| rs753421045 | 10:104,175,786 | G/C | — | uncertain significance |
| rs748144645 | 10:104,176,203 | C/G | — | uncertain significance |
| rs577209821 | 10:104,176,215 | T/C | — | uncertain significance |
| rs919979876 | 10:104,176,312 | T/C | — | likely benign |
| rs141025645 | 10:104,176,316 | G/A | — | benign |
| rs1460413709 | 10:104,176,331 | T/G | — | likely benign |
| rs775244441 | 10:104,176,485 | C/T | — | uncertain significance |
| rs1469605481 | 10:104,176,523 | C/A | — | uncertain significance |
| rs2544641394 | 10:104,176,549 | A/C | — | uncertain significance |
| rs770307003 | 10:104,176,566 | C/T | — | uncertain significance |
| rs368249861 | 10:104,176,644 | G/T | — | uncertain significance |
| rs2061488035 | 10:104,176,648 | C/T | — | uncertain significance |
| rs200392028 | 10:104,176,766 | C/T | — | likely benign |
| rs747239250 | 10:104,176,769 | G/A | — | likely benign |
| rs1219096955 | 10:104,176,777 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.