Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.S956insFs

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.S956insFs
c.2866dupA
Surrounding Variants
1 paper
NM_182931.3
p.E955G
c.2864A>G
2 papers
NM_182931.3
p.K961delFs
c.2881_2882delAA
2 papers
NM_182931.3
p.E949_N950Splc
c.2848-2A>C
1 paper
NM_182931.3
p.K961fs
c.2881_2882fs
1 paper
NM_182931.3
p.R963H
c.2888G>A
1 paper
NM_182931.3
p.Y965Y
c.2895T>C
1 paper
NM_182931.3
p.E968_G969Splc
c.2905-6A>T
1 paper
NM_182931.3
p.S974*
c.2921C>A
1 paper
NM_182931.3
p.S974*
c.2921C>G
2 papers
NM_182931.3
p.L979delFs
c.2936delT
1 paper
NM_182931.3
p.L979M
c.2935T>A
2 papers
NM_182931.3
p.L979fs
c.2935_2936fs
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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."