Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.G1685insFs

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.G1685insFs
c.5054dupG
Surrounding Variants
1 paper
NM_182931.3
p.P1684insFs
c.5051_5052ins4
2 papers
NM_182931.3
p.P1684_G1685delFs
c.5052_5055del4
2 papers
NM_182931.3
p.P1684_A1687delFs
c.5052_5059del8
2 papers
NM_182931.3
p.G1685fs
c.5053_5054fs
1 paper
NM_182931.3
p.P1684fs
c.5050_5051fs
1 paper
NM_182931.3
p.P1683P
c.5049T>C
1 paper
NM_182931.3
p.P1686fs
c.5056_5057fs
1 paper
NM_182931.3
p.P1686_A1687delFs
c.5058_5059delTG
1 paper
NM_182931.3
p.A1687fs
c.5059_5060fs
1 paper
NM_182931.3
p.H1689delFs
c.5066_5067delAT
1 paper
NM_182931.3
p.H1689fs
c.5065_5066fs
1 paper
NM_182931.3
p.P1678L
c.5033C>T
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