Varaico: Literature-Extracted Genetic Variants

Gene:UBE2O
Variant:p.E448K

UBE2O

87 papers

Pfam Domains

SH3-A_UBE2Oaa 60–143UCSCUBE2O, N-terminal SH3-A domain
tSH3-B_UBE2Oaa 200–344UCSCUBE2O, tandem tSH3-B domain
SH3-B_UBE2Oaa 581–650UCSCUBE2O, SH3-B domain
SH3-C_UBE2Oaa 651–720UCSCUBE2O, ubiquitin binding SH3-C domain
UQ_conaa 957–1106UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 O

HGNC Alias Symbol

E2-230K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022066.4
p.E448K
c.1342G>A
Surrounding Variants
1 paper
NM_022066.4
p.E434G
c.1301A>G
1 paper
NM_022066.4
p.A476T
c.1426G>A
1 paper
NM_022066.4
p.D479Y
c.1435G>T
1 paper
NM_022066.4
p.R408W
c.1222C>T
1 paper
NM_022066.4
p.S493T
c.1477T>A
1 paper
NM_022066.4
p.S493L
c.1478C>T
1 paper
NM_022066.4
p.Q393H
c.1179G>T
1 paper
NM_022066.4
p.Q393H
c.1179G>C
1 paper
NM_022066.4
p.R388L
c.1163G>T
1 paper
NM_022066.4
p.V386A
c.1157T>C
1 paper
NM_022066.4
p.R512H
c.1535G>A
1 paper
NM_022066.4
p.D542delFs
c.1624delC
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