Varaico: Literature-Extracted Genetic Variants

Gene:UBE2I
Variant:p.H83Q

UBE2I

348 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

UQ_conaa 8–152UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 I

HGNC Alias Symbol

UBC9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003345.5
p.H83Q
c.249C>G
Surrounding Variants
1 paper
NM_003345.5
p.H83Q
c.249C>A
1 paper
NM_003345.5
p.H83L
c.248A>T
1 paper
NM_003345.5
p.H83N
c.247C>A
1 paper
NM_003345.5
p.H83Y
c.247C>T
1 paper
NM_003345.5
p.P84P
c.252G>A
1 paper
NM_003345.5
p.V86V
c.258G>C
1 paper
NM_003345.5
p.P88delFs
c.263delC
1 paper
NM_003345.5
p.P88A
c.262C>G
1 paper
NM_003345.5
p.P88S
c.262C>T
1 paper
NM_003345.5
p.S89A
c.265T>G
2 papers
NM_003345.5
p.S89L
c.266C>T
2 papers
NM_003345.5
p.E78K
c.232G>A
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