GAB2
GRB2 associated binding protein 2
Summary
This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2512522 | 11:77,925,855 | G/T | — | — |
| rs138587090 | 11:77,930,327 | G/A | — | likely benign |
| rs115203824 | 11:77,930,402 | C/T | — | benign |
| rs746171817 | 11:77,930,446 | C/T | — | uncertain significance |
| rs769709400 | 11:77,931,369 | C/G | — | uncertain significance |
| rs1464424540 | 11:77,931,451 | T/C | — | uncertain significance |
| rs147686701 | 11:77,932,725 | T/C | — | uncertain significance |
| rs1273608304 | 11:77,932,778 | G/T | — | uncertain significance |
| rs142438889 | 11:77,932,818 | A/T | — | uncertain significance |
| rs201950264 | 11:77,933,143 | G/A | — | likely benign |
| rs760849154 | 11:77,933,226 | A/G | — | uncertain significance |
| rs370982595 | 11:77,934,526 | C/T | — | uncertain significance |
| rs760565831 | 11:77,934,590 | T/C | — | uncertain significance |
| rs771884479 | 11:77,934,658 | T/C | — | uncertain significance |
| rs1188390041 | 11:77,934,676 | T/A | — | uncertain significance |
| rs1460860383 | 11:77,936,158 | A/G | — | uncertain significance |
| rs1385600 | 11:77,936,166 | A/G | synonymous variant | — |
| rs777112393 | 11:77,937,513 | C/T | — | uncertain significance |
| rs187546743 | 11:77,937,535 | T/C | — | uncertain significance |
| rs1319380309 | 11:77,937,552 | C/T | — | uncertain significance |
| rs546063891 | 11:77,937,595 | T/C | — | uncertain significance |
| rs145507659 | 11:77,937,652 | G/C | — | uncertain significance |
| rs1164263130 | 11:77,937,658 | G/A | — | uncertain significance |
| rs561641037 | 11:77,937,742 | T/A | — | uncertain significance |
| rs116286425 | 11:77,937,768 | G/A | — | benign |
| rs114738700 | 11:77,937,777 | A/G | — | uncertain significance |
| rs374228005 | 11:77,937,807 | C/G | — | uncertain significance |
| rs151282334 | 11:77,937,843 | A/G | — | uncertain significance |
| rs751115638 | 11:77,937,847 | C/T | — | uncertain significance |
| rs2497524357 | 11:77,937,879 | C/A | — | uncertain significance |
| rs769955028 | 11:77,937,951 | C/T | — | uncertain significance |
| rs2134470089 | 11:77,937,964 | G/A | — | uncertain significance |
| rs755129738 | 11:77,938,017 | T/C | — | uncertain significance |
| rs144734814 | 11:77,938,042 | C/T | — | uncertain significance |
| rs936974380 | 11:77,938,055 | C/A | — | uncertain significance |
| rs529295814 | 11:77,939,267 | C/T | — | — |
| rs2497601806 | 11:77,961,231 | A/T | — | uncertain significance |
| rs770269898 | 11:77,961,359 | T/C | — | uncertain significance |
| rs767427723 | 11:77,961,404 | G/A | — | uncertain significance |
| rs201497438 | 11:77,961,408 | G/A | — | uncertain significance |
| rs777023521 | 11:77,961,416 | T/A | — | uncertain significance |
| rs76853537 | 11:77,961,419 | C/A | — | benign |
| rs115731941 | 11:77,961,421 | G/A | — | benign |
| rs2511158 | 11:77,973,980 | C/T | intron variant | — |
| rs948662 | 11:77,979,829 | A/G | intron variant | — |
| rs4945261 | 11:77,990,260 | G/A | intron variant | — |
| rs1316630587 | 11:77,991,752 | T/C | — | uncertain significance |
| rs778258950 | 11:77,991,781 | T/C | — | uncertain significance |
| rs1008595547 | 11:77,991,848 | G/C | — | uncertain significance |
| rs763596869 | 11:77,991,857 | T/G | — | uncertain significance |
| rs1386791584 | 11:77,991,890 | C/T | — | uncertain significance |
| rs7101429 | 11:77,992,967 | A/G | intron variant | — |
| rs10793294 | 11:77,996,403 | C/A | regulatory region variant | — |
| rs7107174 | 11:77,997,936 | C/G | — | — |
| rs11237442 | 11:78,005,078 | G/A | intron variant | — |
| rs11237443 | 11:78,005,089 | C/A | intron variant | — |
| rs12574044 | 11:78,033,252 | G/A | upstream gene variant | — |
| rs4945268 | 11:78,037,936 | T/C | intron variant | — |
| rs11237456 | 11:78,040,780 | C/G | intron variant | — |
| rs202186505 | 11:78,042,306 | T/C | — | — |
| rs7115850 | 11:78,045,071 | G/A | — | — |
| rs2292573 | 11:78,053,139 | A/T | — | — |
| rs11237459 | 11:78,056,273 | A/C | intron variant | — |
| rs11237460 | 11:78,056,274 | G/A | intron variant | — |
| rs10899484 | 11:78,068,765 | C/G | intron variant | — |
| rs7940841 | 11:78,079,084 | A/G | intron variant | — |
| rs2373115 | 11:78,091,150 | C/A | intron variant | — |
| rs11237477 | 11:78,095,069 | A/T | upstream gene variant | — |
| rs10899489 | 11:78,095,373 | C/T | — | — |
| rs10899490 | 11:78,105,879 | C/T | downstream gene variant | — |
| rs4945274 | 11:78,109,260 | G/A | intron variant | — |
| rs10431155 | 11:78,121,978 | T/C | intron variant | — |
| rs10899498 | 11:78,124,575 | C/G | regulatory region variant | — |
| rs881337 | 11:78,128,335 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.