PLEKHN1
pleckstrin homology domain containing N1
Summary
Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in several cellular components, including cytoskeleton; cytosol; and mitochondrial membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140019196 | 1:900,519 | A/G | missense variant | — |
| rs3935066 | 1:900,730 | G/T | — | — |
| rs62639980 | 1:901,922 | G/A | — | benign |
| rs149741186 | 1:901,923 | C/A | — | benign |
| rs1397918307 | 1:901,934 | C/T | — | uncertain significance |
| rs138579115 | 1:901,954 | C/T | — | uncertain significance |
| rs372654625 | 1:901,955 | G/C | — | uncertain significance |
| rs146294016 | 1:901,964 | T/C | — | uncertain significance |
| rs772543331 | 1:902,097 | C/T | — | uncertain significance |
| rs761281863 | 1:902,098 | G/A | — | uncertain significance |
| rs371640798 | 1:902,104 | C/T | — | likely benign |
| rs775871856 | 1:902,109 | G/A | — | uncertain significance |
| rs750155366 | 1:902,124 | G/A | — | uncertain significance |
| rs746323701 | 1:902,160 | C/G | — | uncertain significance |
| rs200379767 | 1:902,176 | C/T | — | uncertain significance |
| rs775299142 | 1:905,708 | A/C | — | uncertain significance |
| rs199982229 | 1:905,729 | C/T | — | uncertain significance |
| rs747172470 | 1:905,769 | A/G | — | uncertain significance |
| rs41285810 | 1:905,894 | C/T | — | likely benign |
| rs200191592 | 1:905,901 | G/A | — | uncertain significance |
| rs962064571 | 1:905,914 | G/A | — | uncertain significance |
| rs2522929560 | 1:905,922 | G/A | — | uncertain significance |
| rs577334355 | 1:905,962 | C/G | — | uncertain significance |
| rs373726748 | 1:906,082 | C/T | — | likely benign |
| rs144236796 | 1:906,100 | C/T | — | likely benign |
| rs766380314 | 1:906,105 | G/C | — | uncertain significance |
| rs2522934311 | 1:906,292 | C/G | — | uncertain significance |
| rs199870272 | 1:906,298 | G/A | — | likely benign |
| rs41300090 | 1:906,302 | C/T | — | likely benign |
| rs373281590 | 1:906,303 | G/A | — | uncertain significance |
| rs774208870 | 1:906,342 | G/A | — | uncertain significance |
| rs374323229 | 1:906,355 | G/T | — | uncertain significance |
| rs553651354 | 1:906,358 | C/T | — | likely benign |
| rs777805898 | 1:906,360 | C/T | — | uncertain significance |
| rs552874425 | 1:906,363 | C/T | — | uncertain significance |
| rs370898773 | 1:906,364 | G/A | — | likely benign |
| rs2522935066 | 1:906,370 | A/C | — | uncertain significance |
| rs577867853 | 1:906,373 | C/T | — | uncertain significance |
| rs775326001 | 1:906,493 | C/T | — | uncertain significance |
| rs777113439 | 1:906,506 | G/A | — | likely benign |
| rs2522937967 | 1:906,532 | C/T | — | likely benign |
| rs1175601775 | 1:906,559 | A/T | — | uncertain significance |
| rs2522938565 | 1:906,563 | T/A | — | uncertain significance |
| rs146481946 | 1:906,758 | G/A | — | uncertain significance |
| rs372788067 | 1:907,471 | G/A | — | uncertain significance |
| rs776361448 | 1:907,494 | G/A | — | uncertain significance |
| rs757523916 | 1:907,513 | G/A | — | likely benign |
| rs764326335 | 1:907,689 | G/A | — | uncertain significance |
| rs201124429 | 1:907,691 | G/A | — | uncertain significance |
| rs150711457 | 1:907,709 | G/A | — | uncertain significance |
| rs112235940 | 1:907,740 | G/A | — | uncertain significance |
| rs576954877 | 1:907,784 | G/A | — | uncertain significance |
| rs375704376 | 1:908,269 | C/T | — | uncertain significance |
| rs145574509 | 1:908,275 | G/A | — | benign |
| rs779526083 | 1:908,322 | C/T | — | uncertain significance |
| rs962338518 | 1:908,328 | A/C | — | uncertain significance |
| rs761371239 | 1:908,368 | G/A | — | uncertain significance |
| rs767010078 | 1:908,370 | T/G | — | uncertain significance |
| rs2522960901 | 1:908,380 | A/G | — | uncertain significance |
| rs1367915799 | 1:908,600 | G/A | — | uncertain significance |
| rs747891825 | 1:908,602 | C/T | — | uncertain significance |
| rs760249542 | 1:908,611 | G/A | — | uncertain significance |
| rs3109215 | 1:908,635 | C/T | — | uncertain significance |
| rs537748009 | 1:908,644 | G/A | — | likely benign |
| rs889432324 | 1:908,683 | C/T | — | uncertain significance |
| rs1008573018 | 1:908,699 | T/G | — | uncertain significance |
| rs142233112 | 1:908,917 | C/A | — | uncertain significance |
| rs1288126915 | 1:908,919 | G/C | — | uncertain significance |
| rs201282074 | 1:908,944 | C/T | — | uncertain significance |
| rs1349045521 | 1:908,958 | G/A | — | uncertain significance |
| rs147671258 | 1:908,968 | C/T | — | uncertain significance |
| rs773777961 | 1:908,976 | G/A | — | uncertain significance |
| rs56185812 | 1:909,222 | G/A | — | benign |
| rs149319080 | 1:909,228 | C/G | — | uncertain significance |
| rs72631892 | 1:909,247 | C/T | — | uncertain significance |
| rs145470972 | 1:909,253 | C/T | — | likely benign |
| rs200094371 | 1:909,276 | G/T | — | uncertain significance |
| rs750831547 | 1:909,301 | G/A | — | uncertain significance |
| rs201434720 | 1:909,369 | G/A | — | conflicting classifications of pathogenicity |
| rs149299504 | 1:909,406 | C/T | — | uncertain significance |
| rs750700530 | 1:909,715 | G/T | — | uncertain significance |
| rs756339803 | 1:909,718 | C/T | — | likely benign |
| rs752461073 | 1:909,723 | G/A | — | uncertain significance |
| rs760713629 | 1:909,845 | C/T | — | uncertain significance |
| rs765491496 | 1:909,854 | G/A | — | uncertain significance |
| rs1379767252 | 1:909,897 | A/G | — | likely benign |
| rs776780863 | 1:909,902 | T/C | — | uncertain significance |
| rs369012584 | 1:909,927 | C/T | — | uncertain significance |
| rs577062742 | 1:909,949 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.