Varaico: Literature-Extracted Genetic Variants

Gene:UBE2I
Variant:p.Q126L

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.Q126L
c.377A>T
Surrounding Variants
3 papers
NM_003345.5
p.D127A
c.380A>C
1 paper
NM_003345.5
p.N124S
c.371A>G
1 paper
NM_003345.5
p.A129S
c.385G>T
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.Q130E
c.388C>G
1 paper
NM_003345.5
p.Q130*
c.388C>T
1 paper
NM_003345.5
p.E132V
c.395A>T
1 paper
NM_003345.5
p.L120P
c.359T>C
1 paper
NM_003345.5
p.L119P
c.356T>C
1 paper
NM_003345.5
p.L119R
c.356T>G
1 paper
NM_003345.5
p.E118G
c.353A>G
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