AGAP3
ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
Summary
This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs572361798 | 7:150,783,906 | C/A | — | likely benign |
| rs776065932 | 7:150,783,977 | C/T | — | uncertain significance |
| rs750348682 | 7:150,784,000 | C/T | — | uncertain significance |
| rs200151243 | 7:150,784,001 | C/T | — | uncertain significance |
| rs967614714 | 7:150,784,109 | A/G | — | uncertain significance |
| rs7385751 | 7:150,795,609 | G/A | intron variant | — |
| rs62490313 | 7:150,807,003 | C/T | regulatory region variant | — |
| rs527748673 | 7:150,814,495 | G/T | — | uncertain significance |
| rs73476760 | 7:150,815,346 | C/T | — | benign |
| rs768590477 | 7:150,815,681 | G/A | — | uncertain significance |
| rs200887887 | 7:150,815,696 | A/G | — | uncertain significance |
| rs138479600 | 7:150,817,070 | T/G | — | likely benign |
| rs199876138 | 7:150,817,075 | C/T | — | uncertain significance |
| rs191096334 | 7:150,817,078 | C/T | — | uncertain significance |
| rs1032080349 | 7:150,817,135 | G/A | — | uncertain significance |
| rs1339705102 | 7:150,817,210 | A/G | — | uncertain significance |
| rs1486586828 | 7:150,817,224 | A/G | — | uncertain significance |
| rs2487038263 | 7:150,820,891 | G/T | — | uncertain significance |
| rs369359595 | 7:150,820,917 | G/A | — | uncertain significance |
| rs766871984 | 7:150,825,683 | G/A | — | uncertain significance |
| rs754328076 | 7:150,825,685 | A/C | — | uncertain significance |
| rs531854117 | 7:150,831,530 | G/A | — | uncertain significance |
| rs763875215 | 7:150,831,587 | C/T | — | uncertain significance |
| rs527522879 | 7:150,831,626 | G/A | — | uncertain significance |
| rs151283982 | 7:150,835,242 | C/T | — | uncertain significance |
| rs376845402 | 7:150,835,253 | G/A | — | likely benign |
| rs925378481 | 7:150,835,305 | G/A | — | uncertain significance |
| rs367611573 | 7:150,835,357 | G/C | — | uncertain significance |
| rs758585736 | 7:150,835,388 | A/G | — | uncertain significance |
| rs767911248 | 7:150,837,161 | A/G | — | uncertain significance |
| rs1430139720 | 7:150,838,997 | C/T | — | uncertain significance |
| rs1800828954 | 7:150,839,003 | A/G | — | uncertain significance |
| rs1800829227 | 7:150,839,008 | G/T | — | uncertain significance |
| rs779165451 | 7:150,839,123 | G/A | — | uncertain significance |
| rs761374883 | 7:150,839,283 | G/A | — | uncertain significance |
| rs199958692 | 7:150,839,292 | G/A | — | uncertain significance |
| rs201520383 | 7:150,839,330 | C/T | — | likely benign |
| rs1170673630 | 7:150,839,331 | G/A | — | uncertain significance |
| rs1800854234 | 7:150,839,547 | G/A | — | uncertain significance |
| rs762756434 | 7:150,839,573 | G/A | — | uncertain significance |
| rs368016856 | 7:150,839,616 | C/T | — | uncertain significance |
| rs200184291 | 7:150,840,526 | G/A | — | uncertain significance |
| rs200882121 | 7:150,840,549 | C/G | — | uncertain significance |
| rs1425823642 | 7:150,840,609 | G/A | — | uncertain significance |
| rs1185964420 | 7:150,840,612 | G/A | — | uncertain significance |
| rs777890780 | 7:150,840,657 | G/A | — | uncertain significance |
| rs893439858 | 7:150,840,854 | C/T | — | uncertain significance |
| rs1288708384 | 7:150,840,858 | G/A | — | uncertain significance |
| rs1025794910 | 7:150,840,923 | C/T | — | uncertain significance |
| rs200498979 | 7:150,840,963 | C/T | — | benign |
| rs764333391 | 7:150,840,984 | G/A | — | uncertain significance |
| rs2487255045 | 7:150,840,993 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.