KREMEN1
kringle containing transmembrane protein 1
Summary
This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Mutations in this gene result in ectodermal dysplasia. This protein has also been found to be a functional receptor for Coxsackievirus A10 and may be an alternative entry receptor for SARS-CoV-2. [provided by RefSeq, Nov 2021]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7292708 | 22:29,469,130 | A/C | — | benign |
| rs1010730818 | 22:29,469,159 | C/T | — | uncertain significance |
| rs534421912 | 22:29,469,227 | C/T | — | likely benign |
| rs77320622 | 22:29,476,769 | A/G | regulatory region variant | — |
| rs134613 | 22:29,477,384 | T/G | intron variant | — |
| rs134639 | 22:29,483,060 | A/G | intron variant | — |
| rs1255710108 | 22:29,490,269 | G/C | — | uncertain significance |
| rs375501568 | 22:29,490,289 | C/A | — | uncertain significance |
| rs764936485 | 22:29,490,314 | C/A | — | uncertain significance |
| rs532050281 | 22:29,490,350 | T/C | — | uncertain significance |
| rs73390888 | 22:29,490,381 | G/C | — | likely benign |
| rs577388409 | 22:29,491,064 | C/T | — | — |
| rs1237728918 | 22:29,494,866 | G/A | — | uncertain significance |
| rs754799047 | 22:29,494,896 | G/A | — | uncertain significance |
| rs2517653448 | 22:29,494,903 | G/C | — | uncertain significance |
| rs16987108 | 22:29,508,572 | A/G | upstream gene variant | — |
| rs12158320 | 22:29,509,142 | C/T | upstream gene variant | — |
| rs2038353783 | 22:29,517,344 | G/C | — | uncertain significance |
| rs377056181 | 22:29,517,452 | C/T | — | uncertain significance |
| rs200023748 | 22:29,517,453 | G/A | — | uncertain significance |
| rs61751700 | 22:29,517,463 | G/T | — | benign |
| rs73882473 | 22:29,521,292 | C/T | — | benign |
| rs1057524917 | 22:29,521,399 | T/C | missense variant | pathogenic |
| rs752497936 | 22:29,521,411 | A/T | — | likely benign |
| rs33958791 | 22:29,524,534 | G/A | intron variant | — |
| rs12157998 | 22:29,532,971 | A/G | downstream gene variant | — |
| rs774948642 | 22:29,533,346 | C/T | — | likely benign |
| rs376747118 | 22:29,533,397 | C/T | — | likely benign |
| rs61752343 | 22:29,533,437 | C/T | — | benign |
| rs199636884 | 22:29,533,445 | G/A | — | likely benign |
| rs2517710717 | 22:29,533,489 | G/A | — | uncertain significance |
| rs201849592 | 22:29,533,495 | C/T | — | uncertain significance |
| rs35612970 | 22:29,533,499 | G/A | — | benign |
| rs971202099 | 22:29,533,528 | C/T | — | uncertain significance |
| rs146915661 | 22:29,533,536 | G/A | — | uncertain significance |
| rs74467980 | 22:29,533,553 | C/T | — | benign |
| rs34920087 | 22:29,533,572 | C/G | — | benign |
| rs78986506 | 22:29,533,602 | A/G | — | likely benign |
| rs376600397 | 22:29,533,621 | A/T | — | conflicting classifications of pathogenicity |
| rs375620412 | 22:29,533,634 | G/A | — | likely benign |
| rs369703253 | 22:29,534,608 | C/A | — | likely benign |
| rs16987136 | 22:29,534,621 | A/G | — | benign |
| rs142876972 | 22:29,534,635 | G/A | — | likely benign |
| rs764969123 | 22:29,534,647 | G/A | — | uncertain significance |
| rs767616620 | 22:29,534,657 | C/T | — | uncertain significance |
| rs146078397 | 22:29,534,659 | G/T | — | likely benign |
| rs16987139 | 22:29,534,664 | C/T | — | benign |
| rs201316832 | 22:29,534,701 | G/A | — | likely benign |
| rs775318250 | 22:29,534,707 | C/T | — | uncertain significance |
| rs199671662 | 22:29,534,713 | T/G | — | uncertain significance |
| rs2038711921 | 22:29,534,749 | C/T | — | uncertain significance |
| rs80236653 | 22:29,534,832 | T/C | — | benign |
| rs9625721 | 22:29,536,343 | C/T | — | benign |
| rs1410461495 | 22:29,537,934 | C/T | — | uncertain significance |
| rs2517720437 | 22:29,537,937 | A/G | — | uncertain significance |
| rs73393075 | 22:29,537,940 | G/A | — | likely benign |
| rs2517720560 | 22:29,537,964 | G/A | — | uncertain significance |
| rs16987147 | 22:29,537,965 | G/A | — | benign |
| rs369705403 | 22:29,537,988 | C/T | — | uncertain significance |
| rs117146420 | 22:29,537,989 | G/A | — | benign |
| rs1235533734 | 22:29,538,074 | G/A | — | uncertain significance |
| rs200763396 | 22:29,538,077 | C/T | — | uncertain significance |
| rs713526 | 22:29,543,415 | G/A | intron variant | — |
| rs747423923 | 22:29,563,074 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.