EHD1
EH domain containing 1
Summary
This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs772535208 | 11:64,621,834 | C/A | — | uncertain significance |
| rs755160517 | 11:64,621,942 | C/T | — | uncertain significance |
| rs778148331 | 11:64,621,973 | G/A | — | likely benign |
| rs1318006288 | 11:64,622,017 | C/T | — | uncertain significance |
| rs34740136 | 11:64,622,018 | G/A | — | benign |
| rs201012032 | 11:64,622,073 | G/A | — | uncertain significance |
| rs139248473 | 11:64,622,102 | G/A | — | likely benign |
| rs142433533 | 11:64,622,108 | G/A | — | likely benign |
| rs765042811 | 11:64,622,119 | C/T | — | uncertain significance |
| rs1943627272 | 11:64,622,148 | G/A | — | uncertain significance |
| rs2497847758 | 11:64,622,202 | A/G | — | uncertain significance |
| rs2497847772 | 11:64,622,206 | A/T | — | uncertain significance |
| rs1214239328 | 11:64,622,212 | C/T | — | uncertain significance |
| rs774644717 | 11:64,622,217 | C/T | — | uncertain significance |
| rs139980253 | 11:64,622,242 | T/C | — | uncertain significance |
| rs755240501 | 11:64,622,245 | C/T | — | uncertain significance |
| rs749125705 | 11:64,622,291 | C/T | — | likely benign |
| rs1457787267 | 11:64,622,292 | G/A | — | uncertain significance |
| rs77697875 | 11:64,622,785 | C/T | — | benign |
| rs778919976 | 11:64,622,805 | G/A | — | uncertain significance |
| rs141684244 | 11:64,622,843 | C/T | — | uncertain significance |
| rs764406886 | 11:64,622,867 | C/A | — | uncertain significance |
| rs752633828 | 11:64,622,897 | C/T | — | uncertain significance |
| rs2497857695 | 11:64,627,412 | C/T | — | uncertain significance |
| rs780177579 | 11:64,627,467 | T/C | — | uncertain significance |
| rs61738612 | 11:64,627,492 | G/C | — | benign |
| rs1353963733 | 11:64,627,635 | T/C | — | uncertain significance |
| rs374651114 | 11:64,627,638 | C/T | — | uncertain significance |
| rs77426065 | 11:64,627,752 | G/A | — | benign |
| rs576114454 | 11:64,628,589 | C/T | — | — |
| rs182640158 | 11:64,629,337 | G/T | regulatory region variant | — |
| rs748263460 | 11:64,641,965 | G/C | — | uncertain significance |
| rs2497878992 | 11:64,641,971 | G/A | — | uncertain significance |
| rs61742148 | 11:64,645,595 | G/C | — | benign |
| rs770189746 | 11:64,645,671 | C/T | — | uncertain significance |
| rs368813242 | 11:64,645,691 | G/C | — | uncertain significance |
| rs990876560 | 11:64,645,705 | G/A | — | likely benign |
| rs1943909075 | 11:64,645,710 | C/T | — | uncertain significance |
| rs2497885574 | 11:64,645,725 | T/C | — | uncertain significance |
| rs2497885739 | 11:64,645,761 | G/A | — | uncertain significance |
| rs781223385 | 11:64,645,815 | C/T | — | uncertain significance |
| rs1943911305 | 11:64,645,822 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.