ATP13A4
ATPase 13A4
Summary
Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity and polyamine transmembrane transporter activity. Predicted to be involved in intracellular calcium ion homeostasis and polyamine transmembrane transport. Predicted to be located in early endosome membrane and recycling endosome membrane. Predicted to be active in endoplasmic reticulum membrane and late endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants107 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9863164 | 3:193,120,459 | G/A | — | benign |
| rs369716884 | 3:193,120,508 | A/T | — | uncertain significance |
| rs149270045 | 3:193,120,535 | G/A | — | benign |
| rs2474128321 | 3:193,120,547 | G/A | — | uncertain significance |
| rs771987417 | 3:193,120,566 | T/C | — | uncertain significance |
| rs61733355 | 3:193,120,627 | C/T | — | benign |
| rs910808222 | 3:193,125,104 | C/T | — | uncertain significance |
| rs147141866 | 3:193,125,113 | G/A | — | uncertain significance |
| rs776750472 | 3:193,125,120 | A/C | — | uncertain significance |
| rs371115603 | 3:193,125,154 | G/A | — | likely benign |
| rs761713521 | 3:193,128,778 | C/T | — | uncertain significance |
| rs765075604 | 3:193,128,779 | G/A | — | uncertain significance |
| rs756123095 | 3:193,128,824 | C/A | — | uncertain significance |
| rs959040143 | 3:193,128,845 | C/G | — | uncertain significance |
| rs115558454 | 3:193,130,054 | C/T | — | likely benign |
| rs189928723 | 3:193,130,069 | A/G | — | uncertain significance |
| rs2474139567 | 3:193,130,086 | T/C | — | uncertain significance |
| rs754116788 | 3:193,130,120 | T/C | — | uncertain significance |
| rs1273025078 | 3:193,132,419 | G/A | — | likely benign |
| rs116053605 | 3:193,132,435 | G/A | — | benign |
| rs745825500 | 3:193,132,437 | C/T | — | uncertain significance |
| rs150429290 | 3:193,132,487 | C/A | — | likely benign |
| rs751951657 | 3:193,132,488 | C/T | — | uncertain significance |
| rs753146138 | 3:193,132,492 | C/T | — | uncertain significance |
| rs138787975 | 3:193,132,522 | A/G | — | conflicting classifications of pathogenicity |
| rs774559852 | 3:193,132,536 | T/C | — | uncertain significance |
| rs759931478 | 3:193,132,537 | T/G | — | uncertain significance |
| rs554427129 | 3:193,153,481 | G/C | — | uncertain significance |
| rs568219358 | 3:193,153,508 | A/C | — | uncertain significance |
| rs763886560 | 3:193,156,280 | C/T | — | uncertain significance |
| rs761508820 | 3:193,156,342 | A/G | — | uncertain significance |
| rs1716468143 | 3:193,156,821 | A/C | — | uncertain significance |
| rs1482304519 | 3:193,156,831 | T/C | — | uncertain significance |
| rs138414737 | 3:193,158,385 | C/T | — | benign |
| rs767883243 | 3:193,159,350 | C/T | — | uncertain significance |
| rs778874179 | 3:193,159,375 | G/A | — | likely benign |
| rs148801084 | 3:193,160,232 | T/C | — | uncertain significance |
| rs771030873 | 3:193,160,251 | G/A | — | likely benign |
| rs139578706 | 3:193,166,028 | T/C | — | benign |
| rs573266062 | 3:193,166,032 | C/A | — | uncertain significance |
| rs750651530 | 3:193,166,036 | T/G | — | likely benign |
| rs758418780 | 3:193,166,051 | G/C | — | uncertain significance |
| rs780171151 | 3:193,166,055 | C/T | — | uncertain significance |
| rs543094231 | 3:193,166,064 | A/G | — | likely benign |
| rs754954337 | 3:193,171,943 | T/A | — | likely benign |
| rs756711201 | 3:193,171,959 | T/C | — | uncertain significance |
| rs145604296 | 3:193,171,965 | G/A | — | uncertain significance |
| rs2474203285 | 3:193,171,974 | T/G | — | uncertain significance |
| rs35424709 | 3:193,171,979 | T/A | — | benign |
| rs78695718 | 3:193,171,996 | T/C | — | benign |
| rs2474203327 | 3:193,171,998 | G/A | — | uncertain significance |
| rs763404388 | 3:193,172,001 | A/C | — | uncertain significance |
| rs9879227 | 3:193,174,782 | C/T | — | benign |
| rs2474208595 | 3:193,174,836 | A/G | — | uncertain significance |
| rs1224524332 | 3:193,174,929 | C/T | — | uncertain significance |
| rs146217259 | 3:193,175,184 | C/G | — | likely benign |
| rs199804613 | 3:193,175,198 | C/G | — | uncertain significance |
| rs370317634 | 3:193,175,234 | G/A | — | likely benign |
| rs200364064 | 3:193,176,954 | C/T | — | uncertain significance |
| rs62285744 | 3:193,180,510 | G/T | intron variant | — |
| rs747603897 | 3:193,180,566 | G/C | — | uncertain significance |
| rs1467014402 | 3:193,180,579 | A/G | — | uncertain significance |
| rs2474223595 | 3:193,182,778 | G/A | — | uncertain significance |
| rs1057523673 | 3:193,182,794 | T/C | — | uncertain significance |
| rs2474223647 | 3:193,182,797 | C/G | — | uncertain significance |
| rs150003375 | 3:193,182,820 | G/A | — | uncertain significance |
| rs201433871 | 3:193,182,821 | C/T | — | uncertain significance |
| rs759614179 | 3:193,182,867 | C/T | — | likely benign |
| rs148750067 | 3:193,182,868 | G/A | — | uncertain significance |
| rs151251313 | 3:193,182,914 | G/T | — | uncertain significance |
| rs199991740 | 3:193,183,845 | A/G | — | uncertain significance |
| rs145321639 | 3:193,183,886 | C/G | — | uncertain significance |
| rs375690030 | 3:193,183,887 | C/A | — | uncertain significance |
| rs148851166 | 3:193,185,130 | G/A | — | benign |
| rs202047223 | 3:193,185,179 | A/G | — | uncertain significance |
| rs369934900 | 3:193,185,189 | G/A | — | likely benign |
| rs2474227550 | 3:193,185,251 | G/A | — | uncertain significance |
| rs1359451982 | 3:193,188,659 | C/T | — | uncertain significance |
| rs2474231937 | 3:193,188,731 | A/G | — | uncertain significance |
| rs372614216 | 3:193,188,751 | C/T | — | likely benign |
| rs1329450400 | 3:193,201,749 | T/C | — | uncertain significance |
| rs371972091 | 3:193,201,803 | G/C | — | likely benign |
| rs201200518 | 3:193,207,570 | G/A | — | likely benign |
| rs369316760 | 3:193,207,592 | T/C | — | uncertain significance |
| rs1305154605 | 3:193,207,635 | T/C | — | uncertain significance |
| rs181256207 | 3:193,209,140 | A/G | — | uncertain significance |
| rs576236727 | 3:193,209,147 | T/G | — | uncertain significance |
| rs6788448 | 3:193,209,178 | T/C | — | benign |
| rs149579644 | 3:193,210,749 | G/A | — | uncertain significance |
| rs200164728 | 3:193,210,924 | A/G | — | uncertain significance |
| rs2474267649 | 3:193,210,933 | A/C | — | uncertain significance |
| rs774071588 | 3:193,220,365 | C/A | — | uncertain significance |
| rs1393561450 | 3:193,220,397 | A/G | — | uncertain significance |
| rs146415399 | 3:193,220,428 | C/T | — | uncertain significance |
| rs541561780 | 3:193,224,374 | C/T | — | — |
| rs200435920 | 3:193,232,488 | G/T | — | uncertain significance |
| rs142942671 | 3:193,232,539 | T/C | — | likely benign |
| rs149643418 | 3:193,232,549 | C/T | — | uncertain significance |
| rs1005064446 | 3:193,232,609 | C/T | — | uncertain significance |
| rs777439816 | 3:193,232,635 | C/A | — | uncertain significance |
Showing 100 of 107 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.