Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.A62A

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
5 papers
NM_182931.3
p.A62A
c.186G>A
Surrounding Variants
1 paper
NM_182931.3
p.P60L
c.179C>T
1 paper
NM_182931.3
p.I57delFs
c.169delA
1 paper
NM_182931.3
p.Y56delFs
c.168delC
2 papers
NM_182931.3
p.Y56fs
c.166_167fs
2 papers
NM_182931.3
p.Y56delFs
c.167delA
2 papers
NM_182931.3
p.Y56fs
c.166_167fs
1 paper
NM_182931.3
p.H54fs
c.160_161fs
1 paper
NM_182931.3
p.S53L
c.158C>T
1 paper
NM_182931.3
p.H54_S55delFs
c.162_163delCA
1 paper
NM_182931.3
p.S49N
c.146G>A
1 paper
NM_182931.3
p.T47fs
c.139_140fs
1 paper
NM_182931.3
p.Y46*
c.138T>A
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