CALU
calumenin
Summary
The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1028982369 | 7:128,388,419 | C/G | — | uncertain significance |
| rs746841708 | 7:128,388,717 | G/A | — | uncertain significance |
| rs339046 | 7:128,390,563 | T/A | — | — |
| rs746969372 | 7:128,394,321 | T/C | — | uncertain significance |
| rs1481098440 | 7:128,394,356 | G/C | — | uncertain significance |
| rs2536247829 | 7:128,394,362 | G/A | — | uncertain significance |
| rs780108940 | 7:128,394,458 | G/A | — | uncertain significance |
| rs775947573 | 7:128,399,001 | C/G | — | uncertain significance |
| rs777311637 | 7:128,399,063 | A/G | — | uncertain significance |
| rs339097 | 7:128,399,224 | A/G | upstream gene variant | — |
| rs4559164 | 7:128,401,810 | G/C | downstream gene variant | — |
| rs339095 | 7:128,406,047 | C/T | — | — |
| rs62479589 | 7:128,406,506 | G/T | — | — |
| rs1240643484 | 7:128,407,527 | G/C | — | uncertain significance |
| rs2536275504 | 7:128,407,566 | C/T | — | likely pathogenic |
| rs753065513 | 7:128,407,600 | G/A | — | uncertain significance |
| rs370095256 | 7:128,409,121 | G/A | — | uncertain significance |
| rs752214417 | 7:128,409,205 | G/A | — | uncertain significance |
| rs11653 | 7:128,409,580 | T/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.