PLEKHA1
pleckstrin homology domain containing A1
Summary
This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11200595 | 10:124,142,629 | T/C | intron variant | — |
| rs759484111 | 10:124,152,834 | G/A | — | uncertain significance |
| rs4146894 | 10:124,155,381 | C/T | intron variant | — |
| rs2421021 | 10:124,157,046 | A/T | — | — |
| rs2096873748 | 10:124,157,489 | A/C | — | uncertain significance |
| rs12218910 | 10:124,158,082 | T/C | — | — |
| rs1322193055 | 10:124,159,859 | G/A | — | uncertain significance |
| rs6585827 | 10:124,165,615 | G/C | — | — |
| rs138054087 | 10:124,166,131 | A/G | — | uncertain significance |
| rs763570458 | 10:124,166,136 | C/G | — | uncertain significance |
| rs2421016 | 10:124,167,512 | T/C | — | benign |
| rs142146743 | 10:124,170,560 | A/G | intron variant | — |
| rs777824004 | 10:124,172,463 | A/C | — | likely benign |
| rs2495933112 | 10:124,172,474 | C/A | — | uncertain significance |
| rs144243343 | 10:124,172,481 | C/G | — | uncertain significance |
| rs772828737 | 10:124,172,504 | G/C | — | uncertain significance |
| rs2097128433 | 10:124,172,560 | A/G | — | uncertain significance |
| rs1422816568 | 10:124,177,437 | T/C | — | uncertain significance |
| rs4311997 | 10:124,179,299 | C/T | regulatory region variant | — |
| rs774089419 | 10:124,183,710 | G/T | — | benign |
| rs760283125 | 10:124,183,730 | C/G | — | uncertain significance |
| rs145549006 | 10:124,184,453 | C/T | — | uncertain significance |
| rs983675955 | 10:124,186,458 | G/T | — | uncertain significance |
| rs374353853 | 10:124,186,530 | G/A | — | uncertain significance |
| rs187243172 | 10:124,186,545 | T/G | — | uncertain significance |
| rs2292626 | 10:124,186,714 | C/T | intron variant | — |
| rs148817741 | 10:124,189,170 | C/T | — | uncertain significance |
| rs751558300 | 10:124,189,180 | G/A | — | uncertain significance |
| rs375458420 | 10:124,189,189 | A/G | — | likely benign |
| rs775805095 | 10:124,189,238 | G/T | — | uncertain significance |
| rs149768814 | 10:124,189,424 | C/G | — | uncertain significance |
| rs574173132 | 10:124,189,425 | G/A | — | uncertain significance |
| rs61757728 | 10:124,189,438 | C/T | — | uncertain significance |
| rs145614918 | 10:124,189,444 | G/A | — | uncertain significance |
| rs10510110 | 10:124,192,430 | T/C | downstream gene variant | — |
| rs7072204 | 10:124,195,485 | A/C | — | — |
| rs11200629 | 10:124,198,585 | A/G | intergenic variant | — |
| rs78438709 | 10:124,201,071 | A/G | intergenic variant | — |
| rs76579910 | 10:124,202,034 | G/T | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.