Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.V1581_F1582delFs

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.V1581_F1582delFs
c.4743_4744delGT
Surrounding Variants
1 paper
NM_182931.3
p.F1582fs
c.4744_4745fs
1 paper
NM_182931.3
p.T1583T
c.4749A>C
2 papers
NM_182931.3
p.H1603H
c.4809C>T
1 paper
NM_182931.3
p.Y1557H
c.4669T>C
5 papers
NM_182931.3
p.H1608insFs
c.4824dupT
5 papers
NM_182931.3
p.L1610fs
c.4828_4829fs
1 paper
NM_182931.3
p.P1547L
c.4640C>T
1 paper
NM_182931.3
p.I1617delFs
c.4851delT
1 paper
NM_182931.3
p.A1624_V1625del2
c.4870_4874del6
2 papers
NM_182931.3
p.A1624insFs
c.4872dupC
2 papers
NM_182931.3
p.V1625fs
c.4873_4874fs
1 paper
NM_182931.3
p.P1627S
c.4879C>T
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