EHD4
EH domain containing 4
Summary
Enables cadherin binding activity. Involved in endocytic recycling and protein homooligomerization. Located in endoplasmic reticulum and recycling endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs991135590 | 15:42,192,926 | G/A | — | uncertain significance |
| rs142369232 | 15:42,192,935 | T/C | — | uncertain significance |
| rs776435039 | 15:42,193,027 | T/C | — | uncertain significance |
| rs751169689 | 15:42,193,057 | T/C | — | uncertain significance |
| rs201800565 | 15:42,193,062 | G/C | — | uncertain significance |
| rs990530380 | 15:42,193,109 | G/C | — | uncertain significance |
| rs199610689 | 15:42,193,139 | C/A | — | uncertain significance |
| rs200863099 | 15:42,193,205 | C/T | — | uncertain significance |
| rs199963790 | 15:42,193,249 | G/A | — | likely benign |
| rs539454245 | 15:42,193,255 | G/A | — | likely benign |
| rs139710378 | 15:42,201,918 | G/T | — | uncertain significance |
| rs781477004 | 15:42,211,475 | T/C | — | uncertain significance |
| rs760724939 | 15:42,211,506 | C/T | — | uncertain significance |
| rs764891494 | 15:42,211,518 | G/A | — | uncertain significance |
| rs148918551 | 15:42,211,571 | C/T | — | uncertain significance |
| rs751987742 | 15:42,211,625 | T/C | — | uncertain significance |
| rs757538412 | 15:42,211,674 | C/T | — | uncertain significance |
| rs150673276 | 15:42,211,689 | C/T | — | uncertain significance |
| rs759988164 | 15:42,211,701 | G/A | — | uncertain significance |
| rs2547979790 | 15:42,211,721 | G/A | — | uncertain significance |
| rs1490847957 | 15:42,211,751 | G/C | — | uncertain significance |
| rs2547979857 | 15:42,211,814 | T/C | — | uncertain significance |
| rs28479572 | 15:42,234,874 | T/A | intron variant | — |
| rs141695670 | 15:42,235,339 | T/C | — | uncertain significance |
| rs755449820 | 15:42,235,357 | A/G | — | uncertain significance |
| rs72726025 | 15:42,240,781 | T/A | — | — |
| rs57556178 | 15:42,242,888 | G/A | intron variant | — |
| rs749853517 | 15:42,245,990 | T/C | — | uncertain significance |
| rs60772450 | 15:42,247,472 | G/T | — | — |
| rs72726027 | 15:42,248,826 | T/C | regulatory region variant | — |
| rs72726037 | 15:42,263,979 | G/T | — | — |
| rs1704413 | 15:42,264,431 | A/G | regulatory region variant | — |
| rs529909896 | 15:42,264,505 | A/C | — | uncertain significance |
| rs1477564392 | 15:42,264,506 | T/C | — | uncertain significance |
| rs2547995547 | 15:42,264,566 | A/C | — | uncertain significance |
| rs1017644098 | 15:42,264,617 | C/A | — | uncertain significance |
| rs569187521 | 15:42,264,644 | C/A | — | uncertain significance |
| rs776154364 | 15:42,264,673 | C/T | — | uncertain significance |
| rs72726038 | 15:42,265,319 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.