Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.S190S

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.S190S
c.570T>C
Surrounding Variants
1 paper
NM_182931.3
p.T211K
c.632C>A
1 paper
NM_182931.3
p.V220F
c.658G>T
1 paper
NM_182931.3
p.K226R
c.677A>G
1 paper
NM_182931.3
p.R227K
c.680G>A
1 paper
NM_182931.3
p.R228fs
c.682_683fs
1 paper
NM_182931.3
p.K229insFs
c.685dupA
1 paper
NM_182931.3
p.S231fs
c.691_692fs
4 papers
NM_182931.3
p.G232R
c.694G>A
4 papers
NM_182931.3
p.G232R
c.694G>C
3 papers
NM_182931.3
p.D186Splc
c.556+1G>A
4 papers
NM_182931.3
p.N183delFs
c.549delT
1 paper
NM_182931.3
p.K180_R181insFs
c.540_543dup4
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