Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.R1422C

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
2 papers
NM_182931.3
p.R1422C
c.4264C>T
Surrounding Variants
1 paper
NM_182931.3
p.H1420Q
c.4260C>A
1 paper
NM_182931.3
p.H1420Q
c.4260C>G
2 papers
NM_182931.3
p.Q1427*
c.4279C>T
2 papers
NM_182931.3
p.H1415P
c.4244A>C
1 paper
NM_182931.3
p.Q1430_L1432del0
c.4290_4295del6
1 paper
NM_182931.3
p.N1407S
c.4220A>G
1 paper
NM_182931.3
p.L1404P
c.4211T>C
1 paper
NM_182931.3
p.P1459fs
c.4375_4376fs
2 papers
NM_182931.3
p.S1466insFs
c.4397_4398ins19
2 papers
NM_182931.3
p.P1467fs
c.4399_4400fs
1 paper
NM_182931.3
p.P1376L
c.4127C>T
3 papers
NM_182931.3
p.P1376S
c.4126C>T
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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."