Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.D1204H

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
Selected Variant
1 paper
NM_182931.3
p.D1204H
c.3610G>C
Surrounding Variants
1 paper
NM_182931.3
p.P1218S
c.3652C>T
1 paper
NM_182931.3
p.P1186T
c.3556C>A
4 papers
NM_182931.3
p.S1185*
c.3554C>A
4 papers
NM_182931.3
p.S1185*
c.3554C>G
2 papers
NM_182931.3
p.Y1224_N1225delFs
c.3672_3673delTA
1 paper
NM_182931.3
p.Y1224fs
c.3670_3671fs
2 papers
NM_182931.3
p.Y1224*
c.3672T>A
2 papers
NM_182931.3
p.Y1224*
c.3672T>G
1 paper
NM_182931.3
p.A1226V
c.3677C>T
1 paper
NM_182931.3
p.L1181fs
c.3541_3542fs
3 papers
NM_182931.3
p.T1176fs
c.3526_3527fs
1 paper
NM_182931.3
p.K1175fs
c.3523_3524fs
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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."