Varaico: Literature-Extracted Genetic Variants

Gene:UBE2I
Variant:p.I96L

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
2 papers
NM_003345.5
p.I96L
c.286A>C
Surrounding Variants
1 paper
NM_003345.5
p.I96V
c.286A>G
1 paper
NM_003345.5
p.I96I
c.288C>T
1 paper
NM_003345.5
p.E98K
c.292G>A
1 paper
NM_003345.5
p.E98G
c.293A>G
1 paper
NM_003345.5
p.E98E
c.294G>A
17 papers
NM_003345.5
p.C93S
c.278G>C
1 paper
NM_003345.5
p.E99*
c.295G>T
18 papers
NM_003345.5
p.C93S
c.277T>A
1 paper
NM_003345.5
p.D100N
c.298G>A
3 papers
NM_003345.5
p.D100A
c.299A>C
1 paper
NM_003345.5
p.T91T
c.273A>C
1 paper
NM_003345.5
p.K101Q
c.301A>C
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