Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.S888A

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.S888A
c.2662T>G
Surrounding Variants
1 paper
NM_182931.3
p.T887A
c.2659A>G
1 paper
NM_182931.3
p.T889A
c.2665A>G
1 paper
NM_182931.3
p.E886G
c.2657A>G
1 paper
NM_182931.3
p.S885L
c.2654C>T
1 paper
NM_182931.3
p.T897S
c.2689A>T
1 paper
NM_182931.3
p.Q878*
c.2632C>T
1 paper
NM_182931.3
p.R874Q
c.2621G>A
3 papers
NM_182931.3
p.R874*
c.2620C>T
1 paper
NM_182931.3
p.K873fs
c.2617_2618fs
1 paper
NM_182931.3
p.K873fs
c.2617_2618fs
1 paper
NM_182931.3
p.P905insFs
c.2714dupC
5 papers
NM_182931.3
p.L871delFs
c.2613delA
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