Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.K649fs

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.K649fs
c.1945_1946fs
Surrounding Variants
1 paper
NM_182931.3
p.R647K
c.1940G>A
1 paper
NM_182931.3
p.T648_Q650delFs
c.1944_1948del5
1 paper
NM_182931.3
p.K652E
c.1954A>G
1 paper
NM_182931.3
p.P642A
c.1924C>G
1 paper
NM_182931.3
p.R658W
c.1972A>T
1 paper
NM_182931.3
p.Q664*
c.1990C>T
1 paper
NM_182931.3
p.R665H
c.1994G>A
1 paper
NM_182931.3
p.I684insFs
c.2051_2052dupTA
1 paper
NM_182931.3
p.E685*
c.2053G>T
1 paper
NM_182931.3
p.D692N
c.2074G>A
1 paper
NM_182931.3
p.I693_L698delFs
c.2077_2093del17
1 paper
NM_182931.3
p.E703*
c.2107G>T
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