DOT1L
DOT1 like histone lysine methyltransferase
Summary
The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]
Known Variants119 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs367661463 | 19:2,164,273 | C/G | — | benign |
| rs4807205 | 19:2,167,878 | A/G | upstream gene variant | — |
| rs12983357 | 19:2,170,868 | G/A | — | — |
| rs12986413 | 19:2,170,954 | A/G | — | — |
| rs12978179 | 19:2,172,378 | T/C | intron variant | — |
| rs8112948 | 19:2,175,005 | T/G | — | — |
| rs10669421 | 19:2,175,007 | T/A | — | — |
| rs11880992 | 19:2,176,403 | G/A | intron variant | — |
| rs12459350 | 19:2,176,586 | A/G | regulatory region variant | — |
| rs12982744 | 19:2,177,193 | C/G | intron variant | — |
| rs2240128 | 19:2,187,276 | T/C | intron variant | — |
| rs12608455 | 19:2,187,793 | T/C | regulatory region variant | — |
| rs150316325 | 19:2,189,749 | G/A | — | benign |
| rs2022708966 | 19:2,189,785 | C/G | — | uncertain significance |
| rs2144742419 | 19:2,191,146 | G/A | — | uncertain significance |
| rs759545923 | 19:2,191,154 | C/T | — | likely benign |
| rs11879054 | 19:2,191,211 | C/T | — | benign |
| rs189013905 | 19:2,193,788 | C/T | — | benign |
| rs768832696 | 19:2,194,523 | C/T | — | uncertain significance |
| rs2269879 | 19:2,194,896 | T/C | intron variant | — |
| rs12983546 | 19:2,195,065 | G/T | intron variant | — |
| rs2269881 | 19:2,195,799 | A/G | intron variant | — |
| rs762387358 | 19:2,199,917 | G/A | — | uncertain significance |
| rs201441854 | 19:2,206,738 | C/T | — | likely benign |
| rs2144815311 | 19:2,207,672 | G/A | — | uncertain significance |
| rs1466950976 | 19:2,210,486 | G/A | — | uncertain significance |
| rs1400104618 | 19:2,210,489 | G/A | — | conflicting classifications of pathogenicity |
| rs142127010 | 19:2,210,497 | C/T | — | benign |
| rs745691240 | 19:2,210,687 | G/A | — | uncertain significance |
| rs76375790 | 19:2,210,736 | C/T | — | likely benign |
| rs371162200 | 19:2,210,795 | C/T | — | uncertain significance |
| rs200004531 | 19:2,210,815 | G/A | — | uncertain significance |
| rs745891015 | 19:2,211,141 | G/A | — | likely benign |
| rs528998179 | 19:2,211,175 | G/A | — | uncertain significance |
| rs201929424 | 19:2,211,179 | C/T | — | uncertain significance |
| rs1271960453 | 19:2,213,599 | A/C | — | uncertain significance |
| rs747545389 | 19:2,213,614 | G/A | — | uncertain significance |
| rs772701533 | 19:2,213,621 | T/G | — | uncertain significance |
| rs2023791080 | 19:2,213,631 | T/G | — | uncertain significance |
| rs2512411198 | 19:2,213,878 | C/A | — | uncertain significance |
| rs376032475 | 19:2,213,968 | G/A | — | likely benign |
| rs2144852356 | 19:2,213,980 | C/T | — | uncertain significance |
| rs116033156 | 19:2,214,484 | C/T | — | likely benign |
| rs370276763 | 19:2,216,358 | G/A | — | likely benign |
| rs2512420920 | 19:2,216,477 | G/C | — | uncertain significance |
| rs372258317 | 19:2,216,482 | C/A | — | uncertain significance |
| rs754227037 | 19:2,216,539 | G/A | — | uncertain significance |
| rs1368151749 | 19:2,216,604 | T/C | — | uncertain significance |
| rs763886423 | 19:2,216,616 | C/T | — | uncertain significance |
| rs557983259 | 19:2,216,619 | G/A | — | uncertain significance |
| rs374448963 | 19:2,216,625 | C/T | — | uncertain significance |
| rs776898259 | 19:2,216,629 | C/T | — | uncertain significance |
| rs554988360 | 19:2,216,630 | G/A | — | likely benign |
| rs769937964 | 19:2,216,631 | C/T | — | uncertain significance |
| rs370449545 | 19:2,216,722 | A/G | — | uncertain significance |
| rs1285057389 | 19:2,216,740 | C/T | — | uncertain significance |
| rs2512425905 | 19:2,216,962 | A/G | — | uncertain significance |
| rs562099241 | 19:2,217,014 | G/T | — | likely benign |
| rs773448901 | 19:2,217,767 | G/A | — | uncertain significance |
| rs201843576 | 19:2,217,786 | G/A | — | likely benign |
| rs757711482 | 19:2,217,790 | A/T | — | uncertain significance |
| rs544749605 | 19:2,217,905 | C/T | — | likely benign |
| rs2144878433 | 19:2,217,918 | G/A | — | uncertain significance |
| rs367745383 | 19:2,220,152 | A/T | — | uncertain significance |
| rs1342877161 | 19:2,222,059 | C/A | — | uncertain significance |
| rs1013270501 | 19:2,222,110 | G/A | — | uncertain significance |
| rs760542574 | 19:2,222,151 | C/T | — | uncertain significance |
| rs200013941 | 19:2,222,158 | C/T | — | uncertain significance |
| rs923183589 | 19:2,222,175 | G/C | — | uncertain significance |
| rs1043570410 | 19:2,222,202 | C/G | — | uncertain significance |
| rs571375214 | 19:2,222,232 | G/A | — | uncertain significance |
| rs753193665 | 19:2,222,242 | A/G | — | uncertain significance |
| rs769800200 | 19:2,222,284 | G/T | — | uncertain significance |
| rs144165419 | 19:2,222,325 | G/A | — | likely benign |
| rs2144905033 | 19:2,222,360 | C/G | — | uncertain significance |
| rs201646049 | 19:2,222,372 | C/T | — | benign |
| rs201872028 | 19:2,222,379 | G/A | — | uncertain significance |
| rs769061575 | 19:2,222,430 | C/T | — | uncertain significance |
| rs767333580 | 19:2,222,457 | C/T | — | uncertain significance |
| rs1568367881 | 19:2,222,458 | C/A | — | uncertain significance |
| rs34964618 | 19:2,222,471 | A/T | — | benign |
| rs115585458 | 19:2,223,282 | C/T | — | benign |
| rs2024204879 | 19:2,223,406 | A/T | — | uncertain significance |
| rs376961888 | 19:2,223,416 | A/G | — | uncertain significance |
| rs1217779941 | 19:2,223,425 | A/G | — | uncertain significance |
| rs2144913139 | 19:2,223,448 | G/A | — | uncertain significance |
| rs1399832084 | 19:2,225,434 | C/T | — | uncertain significance |
| rs1016610646 | 19:2,226,185 | G/T | — | uncertain significance |
| rs781060698 | 19:2,226,209 | C/T | — | uncertain significance |
| rs746296299 | 19:2,226,230 | A/G | — | likely benign |
| rs927525441 | 19:2,226,268 | G/C | — | uncertain significance |
| rs949080855 | 19:2,226,287 | C/T | — | uncertain significance |
| rs376487667 | 19:2,226,316 | G/A | — | likely benign |
| rs200251876 | 19:2,226,415 | T/C | — | uncertain significance |
| rs751736857 | 19:2,226,416 | C/T | — | uncertain significance |
| rs540044548 | 19:2,226,428 | C/G | — | uncertain significance |
| rs773019943 | 19:2,226,443 | C/G | — | uncertain significance |
| rs951636242 | 19:2,226,556 | G/A | — | uncertain significance |
| rs1390114953 | 19:2,226,610 | G/C | — | uncertain significance |
| rs745638118 | 19:2,226,649 | G/T | — | uncertain significance |
Showing 100 of 119 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.