Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.S1066delFs

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
5 papers
NM_182931.3
p.S1066delFs
c.3198delC
Surrounding Variants
2 papers
NM_182931.3
p.S1066fs
c.3196_3197fs
1 paper
NM_182931.3
p.W1067fs
c.3199_3200fs
2 papers
NM_182931.3
p.S1066_F1078delFs
c.3198_3234del37
2 papers
NM_182931.3
p.W1067fs
c.3199_3200fs
1 paper
NM_182931.3
p.D1086V
c.3257A>T
2 papers
NM_182931.3
p.S1090L
c.3269C>T
1 paper
NM_182931.3
p.T1033T
c.3099T>C
1 paper
NM_182931.3
p.T1033S
c.3098C>G
1 paper
NM_182931.3
p.T1033S
c.3097A>T
1 paper
NM_182931.3
p.R1100Q
c.3299G>A
1 paper
NM_182931.3
p.Q1024P
c.3071A>C
2 papers
NM_182931.3
p.Q1024*
c.3070C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."