Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E

KMT2E

217 papers

RefSeq Summary

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein in...

Pfam Domains

PHD_5aa 110–165UCSCPhD finger domain
SETaa 341–447UCSCSET domain

Gene Aliases

HGNC Name

lysine methyltransferase 2E (inactive)

HGNC Previous Symbol

MLL5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 382 variants
6 papers
NM_182931.3
p.T1176_E1177delFs
c.3527_3530del4
5 papers
NM_182931.3
p.A62A
c.186G>A
5 papers
NM_182931.3
p.L871delFs
c.2613delA
5 papers
NM_182931.3
p.S1066delFs
c.3198delC
5 papers
NM_182931.3
p.H1608insFs
c.4824dupT
5 papers
NM_182931.3
p.L1610fs
c.4828_4829fs
4 papers
NM_182931.3
p.N183delFs
c.549delT
4 papers
NM_182931.3
p.G232R
c.694G>A
4 papers
NM_182931.3
p.G232R
c.694G>C
4 papers
NM_182931.3
p.E592_R594delFs
c.1776_1780del5
4 papers
NM_182931.3
p.G999C
c.2995G>T
4 papers
NM_182931.3
p.S1185*
c.3554C>A
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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."