Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.S1532N

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.S1532N
c.4595G>A
Surrounding Variants
1 paper
NM_182931.3
p.S1532R
c.4594A>C
1 paper
NM_182931.3
p.S1532R
c.4596T>A
1 paper
NM_182931.3
p.S1532R
c.4596T>G
1 paper
NM_182931.3
p.Q1533Q
c.4599G>A
1 paper
NM_182931.3
p.P1547L
c.4640C>T
1 paper
NM_182931.3
p.Y1557H
c.4669T>C
1 paper
NM_182931.3
p.P1501A
c.4501C>G
2 papers
NM_182931.3
p.Q1496fs
c.4486_4487fs
2 papers
NM_182931.3
p.P1495_Q1496delFs
c.4485_4486delTC
1 paper
NM_182931.3
p.V1581_F1582delFs
c.4743_4744delGT
1 paper
NM_182931.3
p.Q1484*
c.4450C>T
1 paper
NM_182931.3
p.F1582fs
c.4744_4745fs
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