Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.Q1024P

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.Q1024P
c.3071A>C
Surrounding Variants
2 papers
NM_182931.3
p.Q1024*
c.3070C>T
1 paper
NM_182931.3
p.D1022_L1023delFs
c.3066_3069del4
2 papers
NM_182931.3
p.D1022H
c.3064G>C
1 paper
NM_182931.3
p.E1018insFs
c.3053dupA
1 paper
NM_182931.3
p.T1033S
c.3097A>T
1 paper
NM_182931.3
p.T1033S
c.3098C>G
1 paper
NM_182931.3
p.T1033T
c.3099T>C
1 paper
NM_182931.3
p.Q1012*
c.3034C>T
1 paper
NM_182931.3
p.T1001M
c.3002C>T
4 papers
NM_182931.3
p.G999C
c.2995G>T
2 papers
NM_182931.3
p.S1066_F1078delFs
c.3198_3234del37
2 papers
NM_182931.3
p.S1066fs
c.3196_3197fs
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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."