Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.E592_R594delFs

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
4 papers
NM_182931.3
p.E592_R594delFs
c.1776_1780del5
Surrounding Variants
1 paper
NM_182931.3
p.E592E
c.1776A>G
3 papers
NM_182931.3
p.K593fs
c.1777_1778fs
2 papers
NM_182931.3
p.R604delFs
c.1812delG
2 papers
NM_182931.3
p.I605fs
c.1813_1814fs
1 paper
NM_182931.3
p.E577fs
c.1729_1730fs
1 paper
NM_182931.3
p.E577_E578delFs
c.1729_1733del5
1 paper
NM_182931.3
p.P642A
c.1924C>G
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.K649fs
c.1945_1946fs
1 paper
NM_182931.3
p.K652E
c.1954A>G
1 paper
NM_182931.3
p.R658W
c.1972A>T
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