ETNK2
ethanolamine kinase 2
Summary
The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1356164803 | 1:204,101,322 | A/T | — | uncertain significance |
| rs2293335 | 1:204,103,618 | G/A | regulatory region variant | — |
| rs1243942958 | 1:204,103,705 | G/C | — | uncertain significance |
| rs144439568 | 1:204,106,291 | T/A | — | uncertain significance |
| rs61825753 | 1:204,106,316 | G/C | — | uncertain significance |
| rs140658518 | 1:204,106,337 | C/G | — | likely benign |
| rs374969247 | 1:204,109,241 | C/T | — | uncertain significance |
| rs116285702 | 1:204,110,501 | A/C | — | benign |
| rs754108955 | 1:204,110,548 | G/A | — | uncertain significance |
| rs758961107 | 1:204,110,556 | A/G | — | uncertain significance |
| rs2527438343 | 1:204,110,583 | A/G | — | uncertain significance |
| rs3795578 | 1:204,112,984 | G/A | downstream gene variant | — |
| rs141660869 | 1:204,113,987 | A/C | downstream gene variant | — |
| rs1364081724 | 1:204,115,858 | T/C | — | uncertain significance |
| rs1657801830 | 1:204,115,892 | C/T | — | likely benign |
| rs141281450 | 1:204,118,850 | G/A | — | uncertain significance |
| rs745615577 | 1:204,118,933 | C/T | — | uncertain significance |
| rs1000394921 | 1:204,119,038 | T/C | — | uncertain significance |
| rs779395017 | 1:204,120,845 | G/A | — | uncertain significance |
| rs1477319727 | 1:204,120,848 | G/A | — | uncertain significance |
| rs1296606725 | 1:204,120,863 | G/C | — | uncertain significance |
| rs879472136 | 1:204,120,947 | C/A | — | likely benign |
| rs772697570 | 1:204,120,953 | G/T | — | uncertain significance |
| rs746714627 | 1:204,120,968 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.