L3MBTL2
L3MBTL histone methyl-lysine binding protein 2
Summary
Enables methylated histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to act upstream of or within several processes, including ectoderm development; stem cell differentiation; and stem cell proliferation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs762505607 | 22:41,601,375 | G/T | — | uncertain significance |
| rs2517851395 | 22:41,601,386 | T/C | — | uncertain significance |
| rs139434 | 22:41,604,785 | A/G | downstream gene variant | — |
| rs551286952 | 22:41,605,715 | G/A | — | pathogenic |
| rs2030559592 | 22:41,605,764 | A/G | — | uncertain significance |
| rs143455680 | 22:41,605,776 | G/C | — | benign |
| rs1313777579 | 22:41,605,800 | G/A | — | uncertain significance |
| rs781641603 | 22:41,605,840 | A/T | — | uncertain significance |
| rs199991179 | 22:41,605,892 | A/G | — | uncertain significance |
| rs754408349 | 22:41,605,905 | C/A | — | uncertain significance |
| rs757658552 | 22:41,605,907 | C/T | — | uncertain significance |
| rs554400330 | 22:41,612,264 | A/T | — | uncertain significance |
| rs764867743 | 22:41,613,163 | A/G | — | uncertain significance |
| rs751364578 | 22:41,613,181 | C/T | — | uncertain significance |
| rs9611519 | 22:41,613,188 | C/G | synonymous variant | — |
| rs771920200 | 22:41,615,449 | T/A | — | uncertain significance |
| rs2517874671 | 22:41,615,474 | G/C | — | uncertain significance |
| rs755596209 | 22:41,615,519 | G/A | — | uncertain significance |
| rs2517874913 | 22:41,615,525 | G/A | — | uncertain significance |
| rs35244576 | 22:41,616,778 | C/T | — | benign |
| rs1241156165 | 22:41,616,786 | A/T | — | uncertain significance |
| rs1180695815 | 22:41,616,827 | A/C | — | uncertain significance |
| rs79543 | 22:41,617,026 | T/A | — | — |
| rs745928119 | 22:41,617,223 | G/A | — | uncertain significance |
| rs774935410 | 22:41,617,248 | G/A | — | uncertain significance |
| rs75888626 | 22:41,617,250 | C/G | — | uncertain significance |
| rs374138813 | 22:41,617,274 | G/A | — | uncertain significance |
| rs2517879458 | 22:41,617,288 | C/G | — | uncertain significance |
| rs139472 | 22:41,617,318 | G/T | — | — |
| rs5758265 | 22:41,617,897 | G/T | — | — |
| rs1405395333 | 22:41,620,102 | C/T | — | uncertain significance |
| rs139346290 | 22:41,620,138 | C/T | — | benign |
| rs374904653 | 22:41,620,228 | C/T | — | uncertain significance |
| rs780943275 | 22:41,620,764 | C/T | — | uncertain significance |
| rs2517885469 | 22:41,620,767 | A/G | — | uncertain significance |
| rs141102760 | 22:41,620,785 | G/A | — | uncertain significance |
| rs1209472980 | 22:41,621,029 | T/C | — | uncertain significance |
| rs2517886185 | 22:41,621,061 | G/A | — | uncertain significance |
| rs2179744 | 22:41,621,714 | G/T | — | — |
| rs374537053 | 22:41,621,834 | G/A | — | uncertain significance |
| rs5758268 | 22:41,622,419 | A/T | downstream gene variant | — |
| rs775803699 | 22:41,622,699 | A/G | — | uncertain significance |
| rs1308925406 | 22:41,623,112 | T/A | — | uncertain significance |
| rs781625142 | 22:41,623,175 | C/T | — | uncertain significance |
| rs757589004 | 22:41,623,276 | G/A | — | uncertain significance |
| rs142256697 | 22:41,623,324 | G/A | — | likely benign |
| rs139478 | 22:41,624,761 | G/A | downstream gene variant | — |
| rs143799837 | 22:41,625,568 | C/T | — | uncertain significance |
| rs375958772 | 22:41,625,646 | C/G | — | uncertain significance |
| rs954517657 | 22:41,626,154 | C/T | — | uncertain significance |
| rs150229614 | 22:41,626,155 | G/A | — | uncertain significance |
| rs1555922213 | 22:41,626,166 | G/A | — | uncertain significance |
| rs199544355 | 22:41,626,186 | G/A | — | likely benign |
| rs145649779 | 22:41,626,225 | C/T | — | likely benign |
| rs5751069 | 22:41,627,775 | C/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.