CD244
CD244 molecule
Summary
This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs539450494 | 1:160,800,349 | G/A | — | — |
| rs3766377 | 1:160,800,559 | G/A | — | benign |
| rs12145141 | 1:160,800,852 | A/G | downstream gene variant | — |
| rs376214679 | 1:160,801,155 | G/T | — | uncertain significance |
| rs369311545 | 1:160,801,171 | C/T | — | uncertain significance |
| rs140746142 | 1:160,801,172 | G/A | — | benign |
| rs193921024 | 1:160,802,355 | C/T | — | uncertain significance |
| rs146040562 | 1:160,802,358 | G/T | — | uncertain significance |
| rs2525675991 | 1:160,803,897 | G/T | — | uncertain significance |
| rs2280416 | 1:160,806,625 | A/G | intron variant | — |
| rs3766379 | 1:160,807,715 | T/C | regulatory region variant | risk factor |
| rs2525695680 | 1:160,808,282 | T/C | — | likely benign |
| rs778348922 | 1:160,808,788 | A/G | — | uncertain significance |
| rs76030314 | 1:160,808,810 | T/C | — | benign |
| rs6682654 | 1:160,809,003 | G/A | intron variant | — |
| rs184282870 | 1:160,811,001 | C/A | — | likely benign |
| rs199597279 | 1:160,811,004 | A/C | — | uncertain significance |
| rs773155812 | 1:160,811,038 | G/T | — | uncertain significance |
| rs375651874 | 1:160,811,044 | C/T | — | likely benign |
| rs141678603 | 1:160,811,120 | A/G | — | likely benign |
| rs574301343 | 1:160,811,238 | C/A | — | uncertain significance |
| rs373331921 | 1:160,811,258 | G/A | — | uncertain significance |
| rs2525713414 | 1:160,811,278 | G/A | — | uncertain significance |
| rs1669540060 | 1:160,811,279 | G/A | — | uncertain significance |
| rs115868021 | 1:160,811,374 | C/G | missense variant | — |
| rs34846692 | 1:160,811,488 | T/C | missense variant | — |
| rs147284102 | 1:160,811,505 | A/T | — | uncertain significance |
| rs760755746 | 1:160,811,530 | G/T | — | likely benign |
| rs140915491 | 1:160,811,621 | T/C | — | uncertain significance |
| rs571178885 | 1:160,813,262 | A/T | — | — |
| rs56337978 | 1:160,815,690 | A/C | upstream gene variant | — |
| rs7553511 | 1:160,816,698 | T/C | upstream gene variant | — |
| rs186209253 | 1:160,820,584 | C/G | downstream gene variant | — |
| rs192015392 | 1:160,822,945 | G/A | downstream gene variant | — |
| rs4656940 | 1:160,830,268 | A/G | intron variant | — |
| rs574716207 | 1:160,830,987 | C/T | — | — |
| rs16832484 | 1:160,832,429 | G/A | — | benign |
| rs181763130 | 1:160,832,622 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.