NUF2
NUF2 component of NDC80 kinetochore complex
Summary
This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754940522 | 1:163,295,861 | C/G | — | uncertain significance |
| rs1451187589 | 1:163,295,932 | C/G | — | uncertain significance |
| rs1326442840 | 1:163,298,043 | A/G | — | uncertain significance |
| rs755645930 | 1:163,298,658 | C/T | — | uncertain significance |
| rs368618280 | 1:163,298,659 | G/A | — | uncertain significance |
| rs201079271 | 1:163,306,550 | G/C | — | uncertain significance |
| rs1650773164 | 1:163,306,574 | T/G | — | pathogenic |
| rs373198630 | 1:163,306,606 | C/T | — | uncertain significance |
| rs201463150 | 1:163,306,607 | G/A | — | uncertain significance |
| rs1477070852 | 1:163,306,626 | T/G | — | uncertain significance |
| rs139996430 | 1:163,307,820 | C/T | — | likely benign |
| rs1483830672 | 1:163,307,824 | C/A | — | uncertain significance |
| rs374285371 | 1:163,309,257 | A/C | — | uncertain significance |
| rs7540591 | 1:163,311,099 | G/C | — | — |
| rs149575845 | 1:163,313,635 | C/T | — | uncertain significance |
| rs2526721220 | 1:163,317,555 | C/G | — | uncertain significance |
| rs188255733 | 1:163,317,588 | G/C | — | uncertain significance |
| rs1297116781 | 1:163,317,643 | G/A | — | uncertain significance |
| rs775241650 | 1:163,318,753 | A/C | — | uncertain significance |
| rs2526725306 | 1:163,318,764 | G/T | — | uncertain significance |
| rs146451154 | 1:163,325,157 | G/C | — | uncertain significance |
| rs2526746296 | 1:163,325,173 | A/G | — | uncertain significance |
| rs1214749352 | 1:163,325,188 | G/A | — | uncertain significance |
| rs772625469 | 1:163,325,249 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.