PLEKHA4
pleckstrin homology domain containing A4
Summary
This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181900548 | 19:49,340,587 | C/G | — | uncertain significance |
| rs547824789 | 19:49,340,610 | G/A | — | uncertain significance |
| rs2035567297 | 19:49,340,613 | G/A | — | uncertain significance |
| rs374859573 | 19:49,340,626 | C/A | — | likely benign |
| rs199683358 | 19:49,340,745 | G/A | — | uncertain significance |
| rs2035577988 | 19:49,340,761 | G/A | — | uncertain significance |
| rs146010977 | 19:49,340,782 | G/C | — | uncertain significance |
| rs547665388 | 19:49,341,302 | C/G | — | uncertain significance |
| rs2514177572 | 19:49,341,369 | G/A | — | uncertain significance |
| rs527259546 | 19:49,341,374 | G/A | — | likely benign |
| rs540978224 | 19:49,344,467 | C/T | — | uncertain significance |
| rs370885533 | 19:49,344,468 | G/A | — | uncertain significance |
| rs774034255 | 19:49,344,515 | C/T | — | uncertain significance |
| rs370059930 | 19:49,344,516 | G/A | — | uncertain significance |
| rs149205469 | 19:49,344,522 | G/A | — | uncertain significance |
| rs201224761 | 19:49,344,555 | G/A | — | uncertain significance |
| rs188112039 | 19:49,344,934 | G/A | upstream gene variant | — |
| rs2514218255 | 19:49,348,632 | T/C | — | uncertain significance |
| rs1328870899 | 19:49,348,652 | A/C | — | uncertain significance |
| rs779996458 | 19:49,348,659 | G/A | — | uncertain significance |
| rs371481410 | 19:49,348,680 | G/A | — | uncertain significance |
| rs145653699 | 19:49,348,801 | C/T | — | uncertain significance |
| rs1389033705 | 19:49,348,809 | G/C | — | uncertain significance |
| rs1020394140 | 19:49,348,867 | G/A | — | uncertain significance |
| rs200074374 | 19:49,351,189 | C/T | — | uncertain significance |
| rs144631324 | 19:49,351,242 | A/G | — | uncertain significance |
| rs1188308206 | 19:49,351,261 | C/T | — | uncertain significance |
| rs34879789 | 19:49,352,302 | G/T | — | — |
| rs56235130 | 19:49,353,313 | C/A | intron variant | — |
| rs147150671 | 19:49,355,523 | C/G | — | uncertain significance |
| rs149016081 | 19:49,357,285 | T/C | — | uncertain significance |
| rs754039806 | 19:49,357,304 | C/T | — | uncertain significance |
| rs372247356 | 19:49,358,112 | G/A | — | — |
| rs10418715 | 19:49,360,648 | C/T | intron variant | — |
| rs756853686 | 19:49,360,690 | T/C | — | uncertain significance |
| rs936889720 | 19:49,360,711 | G/A | — | uncertain significance |
| rs1431938990 | 19:49,360,717 | G/A | — | uncertain significance |
| rs757783478 | 19:49,360,738 | G/A | — | likely benign |
| rs746582233 | 19:49,360,748 | G/C | — | uncertain significance |
| rs73061632 | 19:49,361,663 | G/A | intron variant | — |
| rs200380492 | 19:49,362,130 | T/G | — | uncertain significance |
| rs762399245 | 19:49,362,176 | C/T | — | uncertain significance |
| rs370734549 | 19:49,362,182 | A/T | — | uncertain significance |
| rs2514283562 | 19:49,362,221 | T/C | — | uncertain significance |
| rs773927022 | 19:49,362,293 | G/A | — | uncertain significance |
| rs370399727 | 19:49,362,301 | G/A | — | uncertain significance |
| rs1443034756 | 19:49,362,316 | G/T | — | uncertain significance |
| rs1336840698 | 19:49,362,338 | C/A | — | uncertain significance |
| rs1381531122 | 19:49,362,349 | C/G | — | uncertain significance |
| rs1195112236 | 19:49,362,371 | G/A | — | uncertain significance |
| rs2514285427 | 19:49,362,373 | G/A | — | uncertain significance |
| rs1204330940 | 19:49,362,383 | G/A | — | uncertain significance |
| rs2514289119 | 19:49,362,759 | G/A | — | uncertain significance |
| rs35473731 | 19:49,362,772 | T/C | — | likely benign |
| rs1005537206 | 19:49,363,622 | G/A | — | uncertain significance |
| rs144507675 | 19:49,364,674 | C/T | — | uncertain significance |
| rs754675534 | 19:49,364,675 | G/A | — | uncertain significance |
| rs369327643 | 19:49,364,680 | C/T | — | uncertain significance |
| rs374929174 | 19:49,364,692 | G/A | — | uncertain significance |
| rs757137149 | 19:49,364,930 | A/T | — | uncertain significance |
| rs117328695 | 19:49,365,277 | C/A | — | — |
| rs1425841443 | 19:49,368,762 | G/C | — | uncertain significance |
| rs2514320208 | 19:49,368,801 | G/A | — | uncertain significance |
| rs752950468 | 19:49,368,836 | G/A | — | uncertain significance |
| rs201547716 | 19:49,368,858 | G/A | — | uncertain significance |
| rs146535778 | 19:49,368,867 | T/C | — | uncertain significance |
| rs56104184 | 19:49,370,310 | C/T | intron variant | — |
| rs983096914 | 19:49,370,823 | T/C | — | uncertain significance |
| rs776869550 | 19:49,370,858 | C/T | — | uncertain significance |
| rs200342983 | 19:49,370,859 | G/A | — | uncertain significance |
| rs369635881 | 19:49,370,864 | C/T | — | uncertain significance |
| rs73061656 | 19:49,372,355 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.