Varaico: Literature-Extracted Genetic Variants

Gene:UBE2I
Variant:p.A129S

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.A129S
c.385G>T
Surrounding Variants
1 paper
NM_003345.5
p.Q130E
c.388C>G
1 paper
NM_003345.5
p.Q130*
c.388C>T
3 papers
NM_003345.5
p.D127A
c.380A>C
1 paper
NM_003345.5
p.Q126L
c.377A>T
1 paper
NM_003345.5
p.E132V
c.395A>T
1 paper
NM_003345.5
p.N124S
c.371A>G
2 papers
NM_003345.5
p.P123L
c.368C>T
1 paper
NM_003345.5
p.P123A
c.367C>G
1 paper
NM_003345.5
p.T135M
c.404C>T
1 paper
NM_003345.5
p.Y137N
c.409T>A
1 paper
NM_003345.5
p.Y137C
c.410A>G
1 paper
NM_003345.5
p.Y137*
c.411C>A
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