Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.K722_C723delFs

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.K722_C723delFs
c.2164_2167del4
Surrounding Variants
1 paper
NM_182931.3
p.P724delFs
c.2170delC
1 paper
NM_182931.3
p.K732_H733Splc
c.2196+2T>C
1 paper
NM_182931.3
p.T706I
c.2117C>T
1 paper
NM_182931.3
p.T706insFs
c.2116dupA
1 paper
NM_182931.3
p.E703*
c.2107G>T
1 paper
NM_182931.3
p.I693_L698delFs
c.2077_2093del17
1 paper
NM_182931.3
p.D692N
c.2074G>A
1 paper
NM_182931.3
p.E685*
c.2053G>T
1 paper
NM_182931.3
p.I684insFs
c.2051_2052dupTA
1 paper
NM_182931.3
p.R665H
c.1994G>A
1 paper
NM_182931.3
p.Q664*
c.1990C>T
1 paper
NM_182931.3
p.R658W
c.1972A>T
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