EFCAB7
EF-hand calcium binding domain 7
Summary
Predicted to enable calcium ion binding activity. Predicted to be involved in positive regulation of protein import into nucleus; positive regulation of protein localization to ciliary membrane; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasmic side of plasma membrane. Predicted to be part of plasma membrane protein complex. Predicted to be active in ciliary membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs752696467 | 1:63,991,265 | G/A | — | uncertain significance |
| rs1383841396 | 1:63,991,268 | G/A | — | uncertain significance |
| rs139665471 | 1:63,991,295 | C/T | — | uncertain significance |
| rs756392553 | 1:63,991,418 | C/A | — | uncertain significance |
| rs2523613075 | 1:63,997,512 | A/G | — | uncertain significance |
| rs2523616672 | 1:63,998,387 | T/G | — | uncertain significance |
| rs151059690 | 1:63,998,425 | A/G | — | uncertain significance |
| rs9436246 | 1:63,999,194 | A/G | — | benign |
| rs1570388072 | 1:63,999,795 | A/G | — | uncertain significance |
| rs1224381219 | 1:63,999,853 | G/A | — | likely benign |
| rs765144307 | 1:64,011,618 | T/G | — | uncertain significance |
| rs575563288 | 1:64,017,488 | G/A | — | uncertain significance |
| rs555323216 | 1:64,022,808 | A/C | — | uncertain significance |
| rs778540201 | 1:64,027,394 | A/G | — | uncertain significance |
| rs770077046 | 1:64,027,446 | C/T | — | uncertain significance |
| rs144850202 | 1:64,027,454 | C/G | — | uncertain significance |
| rs747392248 | 1:64,027,500 | G/A | — | uncertain significance |
| rs217470 | 1:64,031,050 | C/A | intron variant | — |
| rs1740397 | 1:64,032,283 | A/G | intron variant | — |
| rs143177505 | 1:64,034,015 | A/C | — | uncertain significance |
| rs371838008 | 1:64,034,042 | A/G | — | uncertain significance |
| rs149252955 | 1:64,034,086 | T/C | — | uncertain significance |
| rs751196573 | 1:64,034,092 | C/A | — | uncertain significance |
| rs74568205 | 1:64,036,697 | T/G | — | benign |
| rs149784056 | 1:64,038,174 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.