AKR1E2
aldo-keto reductase family 1 member E2
Summary
The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Known Variants109 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs540418356 | 10:4,868,119 | G/T | — | benign |
| rs2961565 | 10:4,868,120 | T/G | — | benign |
| rs78832739 | 10:4,868,158 | T/G | — | benign |
| rs143761184 | 10:4,868,274 | G/C | — | likely benign |
| rs11252766 | 10:4,868,303 | T/A | — | benign |
| rs2924275 | 10:4,868,445 | T/G | — | benign |
| rs2491045448 | 10:4,868,550 | T/A | — | uncertain significance |
| rs147185600 | 10:4,868,565 | T/C | — | benign |
| rs117373798 | 10:4,868,823 | T/C | — | likely benign |
| rs75079745 | 10:4,868,870 | T/C | — | likely benign |
| rs1901644 | 10:4,872,556 | C/G | — | benign |
| rs2924272 | 10:4,872,573 | G/A | — | benign |
| rs56039972 | 10:4,872,617 | C/T | — | benign |
| rs3750737 | 10:4,872,687 | T/G | — | benign |
| rs3750738 | 10:4,872,769 | T/C | — | benign |
| rs3750739 | 10:4,872,887 | C/A | — | benign |
| rs3750740 | 10:4,872,911 | C/T | — | benign |
| rs148197075 | 10:4,872,916 | G/T | — | uncertain significance |
| rs368269250 | 10:4,872,921 | C/T | — | uncertain significance |
| rs61745201 | 10:4,872,930 | G/A | — | benign |
| rs35429729 | 10:4,872,981 | T/G | — | likely benign |
| rs773986145 | 10:4,873,009 | G/A | — | uncertain significance |
| rs1005907 | 10:4,873,106 | C/T | — | benign |
| rs2167703 | 10:4,875,262 | G/A | — | benign |
| rs12571065 | 10:4,875,276 | C/T | — | benign |
| rs80076154 | 10:4,875,400 | C/T | — | benign |
| rs79720474 | 10:4,875,455 | C/T | — | benign |
| rs17133693 | 10:4,875,591 | A/G | — | benign |
| rs41289263 | 10:4,875,664 | G/A | — | benign |
| rs144571391 | 10:4,875,874 | G/T | — | likely benign |
| rs2961576 | 10:4,875,894 | G/T | — | benign |
| rs17133697 | 10:4,875,923 | A/G | — | benign |
| rs76184294 | 10:4,877,817 | T/G | — | likely benign |
| rs74993572 | 10:4,877,819 | G/T | — | likely benign |
| rs564566156 | 10:4,877,903 | C/T | — | uncertain significance |
| rs1339066082 | 10:4,877,907 | C/T | — | uncertain significance |
| rs2491105814 | 10:4,877,998 | G/C | — | uncertain significance |
| rs79922401 | 10:4,878,081 | G/A | — | benign |
| rs2961580 | 10:4,878,132 | A/C | — | benign |
| rs17133705 | 10:4,878,147 | C/T | — | benign |
| rs2961581 | 10:4,878,204 | T/C | — | benign |
| rs75520694 | 10:4,878,232 | A/G | — | benign |
| rs74228870 | 10:4,878,275 | T/G | — | benign |
| rs112034206 | 10:4,878,315 | C/T | — | benign |
| rs117756375 | 10:4,878,319 | T/C | — | benign |
| rs117018602 | 10:4,878,321 | C/T | — | benign |
| rs80074696 | 10:4,879,372 | C/G | — | benign |
| rs1869220 | 10:4,879,380 | C/T | — | benign |
| rs1869219 | 10:4,879,413 | T/C | — | benign |
| rs1869218 | 10:4,879,425 | A/G | — | benign |
| rs2961584 | 10:4,879,465 | T/C | — | benign |
| rs41336345 | 10:4,879,568 | C/A | — | likely benign |
| rs373745128 | 10:4,879,709 | A/G | — | uncertain significance |
| rs141865610 | 10:4,879,712 | A/G | — | uncertain significance |
| rs781674098 | 10:4,879,736 | A/G | — | uncertain significance |
| rs76596595 | 10:4,879,748 | G/T | — | benign |
| rs150110049 | 10:4,879,774 | G/A | — | uncertain significance |
| rs1901642 | 10:4,879,915 | T/C | — | benign |
| rs79092702 | 10:4,880,077 | T/C | — | benign |
| rs2290350 | 10:4,881,823 | C/G | — | benign |
| rs34882719 | 10:4,881,846 | T/C | — | benign |
| rs141011187 | 10:4,881,867 | T/C | — | benign |
| rs2290349 | 10:4,881,935 | A/G | synonymous variant | benign |
| rs776209014 | 10:4,881,937 | A/G | — | uncertain significance |
| rs980144518 | 10:4,881,982 | T/G | — | uncertain significance |
| rs748910507 | 10:4,882,009 | G/A | — | uncertain significance |
| rs2290348 | 10:4,882,095 | C/T | — | benign |
| rs12569715 | 10:4,883,708 | G/A | — | benign |
| rs12573397 | 10:4,883,725 | T/C | — | benign |
| rs12573159 | 10:4,883,736 | A/G | — | benign |
| rs12573398 | 10:4,883,750 | T/A | — | benign |
| rs78293923 | 10:4,883,764 | G/A | — | benign |
| rs759919247 | 10:4,883,982 | G/A | — | uncertain significance |
| rs763130186 | 10:4,884,002 | C/T | — | uncertain significance |
| rs747721045 | 10:4,884,038 | T/G | — | uncertain significance |
| rs142685834 | 10:4,884,039 | C/A | — | uncertain significance |
| rs2278869 | 10:4,884,076 | A/G | — | benign |
| rs4518987 | 10:4,884,211 | C/T | — | benign |
| rs4593903 | 10:4,884,217 | T/C | — | benign |
| rs4480435 | 10:4,884,244 | C/T | — | benign |
| rs4339941 | 10:4,884,322 | A/C | — | benign |
| rs75023955 | 10:4,884,426 | C/G | — | benign |
| rs11252774 | 10:4,884,447 | G/T | — | benign |
| rs143113841 | 10:4,884,623 | G/C | — | uncertain significance |
| rs12573669 | 10:4,884,642 | T/C | — | benign |
| rs368223677 | 10:4,884,656 | C/G | — | uncertain significance |
| rs201427808 | 10:4,884,668 | C/T | — | uncertain significance |
| rs12570011 | 10:4,884,721 | G/A | — | benign |
| rs2924269 | 10:4,884,784 | T/C | — | benign |
| rs2961592 | 10:4,884,800 | A/G | — | benign |
| rs12573690 | 10:4,884,808 | T/C | — | benign |
| rs77033958 | 10:4,884,810 | C/T | — | likely benign |
| rs2961593 | 10:4,884,963 | T/A | — | benign |
| rs56142017 | 10:4,886,732 | G/A | — | — |
| rs17133762 | 10:4,889,139 | C/A | intron variant | benign |
| rs140861331 | 10:4,889,367 | G/A | — | uncertain significance |
| rs12240276 | 10:4,889,403 | C/T | — | benign |
| rs760323115 | 10:4,889,416 | T/C | — | uncertain significance |
| rs147457633 | 10:4,889,421 | A/G | — | uncertain significance |
| rs1869217 | 10:4,889,475 | G/T | — | benign |
Showing 100 of 109 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.