Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.H1481Y

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.H1481Y
c.4441C>T
Surrounding Variants
1 paper
NM_182931.3
p.Q1484*
c.4450C>T
1 paper
NM_182931.3
p.G1475E
c.4424G>A
1 paper
NM_182931.3
p.P1470R
c.4409C>G
1 paper
NM_182931.3
p.P1470_G1475del6
c.4408_4424del18
2 papers
NM_182931.3
p.P1467fs
c.4399_4400fs
2 papers
NM_182931.3
p.P1495_Q1496delFs
c.4485_4486delTC
2 papers
NM_182931.3
p.S1466insFs
c.4397_4398ins19
2 papers
NM_182931.3
p.Q1496fs
c.4486_4487fs
1 paper
NM_182931.3
p.P1501A
c.4501C>G
1 paper
NM_182931.3
p.P1459fs
c.4375_4376fs
1 paper
NM_182931.3
p.Q1430_L1432del0
c.4290_4295del6
1 paper
NM_182931.3
p.S1532R
c.4594A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."