Varaico: Literature-Extracted Genetic Variants

Gene:DOT1L

DOT1L

405 papers

RefSeq 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 acti...

Pfam Domains

DOT1aa 115–317UCSCHistone methylation protein DOT1

Gene Aliases

HGNC Name

DOT1 like histone lysine methyltransferase

HGNC Alias Symbols

KIAA1814; DOT1; KMT4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 583 variants
7 papers
NM_032482.3
p.G1386S
c.4156G>A
7 papers
NM_032482.3
p.V1418L
c.4252G>C
6 papers
NM_032482.3
p.P1146L
c.3437C>T
6 papers
NM_032482.3
p.G1443C
c.4327G>T
5 papers
NM_032482.3
p.E123K
c.367G>A
5 papers
NM_032482.3
p.G137R
c.409G>A
5 papers
NM_032482.3
p.G137R
c.409G>C
5 papers
NM_032482.3
p.S269L
c.806C>T
5 papers
NM_032482.3
p.R292C
c.874C>T
5 papers
NM_032482.3
p.A353G
c.1058C>G
5 papers
NM_032482.3
p.Q608*
c.1822C>T
4 papers
NM_032482.3
p.C45G
c.133T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."