Varaico: Literature-Extracted Genetic Variants

Gene:KMT2E
Variant:p.I1142_C1146del5

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.I1142_C1146del5
c.3424_3437del15
Surrounding Variants
2 papers
NM_182931.3
p.G1144R
c.3430G>A
2 papers
NM_182931.3
p.G1144R
c.3430G>C
1 paper
NM_182931.3
p.R1135R
c.3405G>A
1 paper
NM_182931.3
p.K1154_K1155delFs
c.3460_3463del4
1 paper
NM_182931.3
p.C1123_T1124del2
c.3367_3371del6
1 paper
NM_182931.3
p.M1115L
c.3343A>C
1 paper
NM_182931.3
p.M1115L
c.3343A>T
1 paper
NM_182931.3
p.R1113T
c.3338G>C
1 paper
NM_182931.3
p.R1113_G1114delins
c.3337_3341delinsGTTTATGGAAA
1 paper
NM_182931.3
p.T1112N
c.3335C>A
1 paper
NM_182931.3
p.R1100Q
c.3299G>A
2 papers
NM_182931.3
p.S1090L
c.3269C>T
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