SH3GL1
SH3 domain containing GRB2 like 1, endophilin A2
Summary
This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs146571406 | 19:4,361,603 | C/T | — | likely benign |
| rs80251498 | 19:4,361,639 | G/A | — | benign |
| rs755032679 | 19:4,361,710 | C/T | — | likely benign |
| rs200448085 | 19:4,361,737 | C/T | — | uncertain significance |
| rs138715687 | 19:4,361,752 | C/G | — | uncertain significance |
| rs150284370 | 19:4,362,335 | G/A | — | uncertain significance |
| rs199700932 | 19:4,362,346 | C/T | — | uncertain significance |
| rs201029225 | 19:4,362,359 | C/T | — | uncertain significance |
| rs997768573 | 19:4,362,367 | C/G | — | uncertain significance |
| rs754369352 | 19:4,362,617 | T/C | — | uncertain significance |
| rs376186521 | 19:4,362,624 | C/T | — | uncertain significance |
| rs771734638 | 19:4,362,652 | C/G | — | uncertain significance |
| rs763039641 | 19:4,362,684 | G/A | — | uncertain significance |
| rs243261 | 19:4,362,691 | G/C | — | benign |
| rs751582205 | 19:4,362,732 | T/A | — | uncertain significance |
| rs243260 | 19:4,363,170 | G/T | — | benign |
| rs62129346 | 19:4,363,289 | C/T | — | benign |
| rs139264612 | 19:4,363,371 | G/A | — | uncertain significance |
| rs369234045 | 19:4,363,407 | C/T | — | uncertain significance |
| rs1972679390 | 19:4,363,413 | G/C | — | uncertain significance |
| rs746365536 | 19:4,363,415 | C/T | — | uncertain significance |
| rs1284446529 | 19:4,363,794 | G/T | — | uncertain significance |
| rs107288 | 19:4,365,397 | T/C | — | benign |
| rs1311329938 | 19:4,365,489 | C/G | — | uncertain significance |
| rs751539443 | 19:4,365,491 | C/T | — | uncertain significance |
| rs539292999 | 19:4,365,494 | C/T | — | uncertain significance |
| rs555932362 | 19:4,365,521 | T/G | — | uncertain significance |
| rs61733019 | 19:4,365,588 | C/T | — | benign |
| rs1478389740 | 19:4,365,595 | T/C | — | uncertain significance |
| rs732716 | 19:4,366,219 | G/A | — | benign |
| rs754044096 | 19:4,366,548 | G/A | — | uncertain significance |
| rs11667543 | 19:4,374,850 | C/T | regulatory region variant | — |
| rs577958578 | 19:4,392,959 | A/T | — | — |
| rs62129356 | 19:4,400,314 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.