ANKHD1
ankyrin repeat and KH domain containing 1
Summary
This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61758138 | 5:139,815,809 | C/G | missense variant | — |
| rs758134675 | 5:139,838,340 | T/C | — | uncertain significance |
| rs766829999 | 5:139,865,205 | A/G | — | uncertain significance |
| rs6871703 | 5:139,886,839 | G/A | — | benign |
| rs141509663 | 5:139,889,279 | G/A | — | uncertain significance |
| rs139029039 | 5:139,917,102 | C/G | — | benign |
| rs772795849 | 5:139,918,965 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.