DGKK
diacylglycerol kinase kappa
Summary
The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141122494 | X:50,113,537 | C/T | — | likely benign |
| rs192915815 | X:50,114,728 | G/A | — | benign |
| rs2519697176 | X:50,118,037 | G/A | — | uncertain significance |
| rs139988151 | X:50,119,823 | C/T | — | benign |
| rs7879090 | X:50,119,927 | A/G | — | benign |
| rs1557224095 | X:50,121,587 | G/A | — | uncertain significance |
| rs782159939 | X:50,121,610 | C/T | — | uncertain significance |
| rs2519699141 | X:50,121,628 | A/G | — | uncertain significance |
| rs781815305 | X:50,122,678 | T/C | — | uncertain significance |
| rs782600344 | X:50,123,016 | C/T | — | uncertain significance |
| rs187535842 | X:50,123,017 | G/A | — | uncertain significance |
| rs1439443042 | X:50,123,035 | T/C | — | uncertain significance |
| rs1569544183 | X:50,125,559 | A/G | — | likely benign |
| rs144819611 | X:50,125,600 | G/A | — | benign |
| rs782538676 | X:50,127,167 | T/G | — | uncertain significance |
| rs782238611 | X:50,127,199 | T/G | — | uncertain significance |
| rs375757316 | X:50,127,216 | C/A | — | uncertain significance |
| rs1924501633 | X:50,127,780 | A/T | — | uncertain significance |
| rs782251782 | X:50,129,463 | G/T | — | uncertain significance |
| rs5961180 | X:50,129,579 | G/A | — | benign |
| rs1557225105 | X:50,130,651 | T/A | — | uncertain significance |
| rs367649149 | X:50,131,581 | G/A | — | likely benign |
| rs782144056 | X:50,133,336 | G/A | — | uncertain significance |
| rs138086016 | X:50,134,444 | A/T | — | benign |
| rs1557225530 | X:50,134,451 | C/T | — | uncertain significance |
| rs782636042 | X:50,134,528 | C/T | — | uncertain significance |
| rs368794595 | X:50,134,544 | C/T | — | uncertain significance |
| rs1557225654 | X:50,135,386 | C/T | — | uncertain significance |
| rs368674338 | X:50,135,424 | G/A | — | uncertain significance |
| rs200258360 | X:50,136,230 | C/A | — | likely benign |
| rs782692314 | X:50,136,238 | G/A | — | uncertain significance |
| rs2519711580 | X:50,146,073 | A/T | — | uncertain significance |
| rs61752352 | X:50,146,118 | C/T | — | uncertain significance |
| rs781799649 | X:50,146,120 | T/A | — | uncertain significance |
| rs2519711975 | X:50,146,556 | G/C | — | uncertain significance |
| rs1557229009 | X:50,163,411 | T/C | — | uncertain significance |
| rs781980858 | X:50,163,418 | G/T | — | uncertain significance |
| rs369763875 | X:50,163,436 | T/C | — | likely benign |
| rs376014418 | X:50,163,489 | C/T | — | uncertain significance |
| rs9969946 | X:50,168,356 | T/C | — | — |
| rs4826631 | X:50,171,428 | T/A | — | — |
| rs1934179 | X:50,182,184 | G/A | intron variant | — |
| rs12557277 | X:50,188,292 | G/A | intron variant | — |
| rs1934177 | X:50,191,591 | G/A | regulatory region variant | — |
| rs2211122 | X:50,202,750 | T/C | intron variant | — |
| rs4554617 | X:50,203,402 | A/C | intron variant | — |
| rs2519164480 | X:50,213,038 | T/C | — | uncertain significance |
| rs201791232 | X:50,213,149 | G/A | — | uncertain significance |
| rs375123197 | X:50,213,157 | C/T | — | uncertain significance |
| rs2519164719 | X:50,213,181 | C/T | — | uncertain significance |
| rs370418319 | X:50,213,258 | C/T | — | likely benign |
| rs1927028253 | X:50,213,268 | G/A | — | uncertain significance |
| rs372489920 | X:50,213,281 | A/T | — | uncertain significance |
| rs782412267 | X:50,213,305 | G/T | — | uncertain significance |
| rs188669823 | X:50,213,361 | G/A | — | benign |
| rs2519165114 | X:50,213,368 | C/T | — | uncertain significance |
| rs2519165118 | X:50,213,372 | G/A | — | likely benign |
| rs1237093238 | X:50,213,375 | C/A | — | likely benign |
| rs181372233 | X:50,213,429 | T/C | — | benign |
| rs2519165293 | X:50,213,439 | T/C | — | uncertain significance |
| rs2519165414 | X:50,213,526 | G/A | — | uncertain significance |
| rs1285907540 | X:50,213,591 | A/T | — | likely benign |
| rs782515213 | X:50,213,595 | G/A | — | uncertain significance |
| rs782543765 | X:50,213,619 | G/A | — | uncertain significance |
| rs782270355 | X:50,213,656 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.