Varaico: Literature-Extracted Genetic Variants

Gene:UBE2I
Variant:p.D19A

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.D19A
c.56A>C
Surrounding Variants
2 papers
NM_003345.5
p.H20D
c.58C>G
1 paper
NM_003345.5
p.K18I
c.53A>T
1 paper
NM_003345.5
p.H20L
c.59A>T
1 paper
NM_003345.5
p.K18E
c.52A>G
1 paper
NM_003345.5
p.K18*
c.52A>T
2 papers
NM_003345.5
p.P21A
c.61C>G
1 paper
NM_003345.5
p.P21S
c.61C>T
1 paper
NM_003345.5
p.A15insFs
c.44dupC
2 papers
NM_003345.5
p.K14R
c.41A>G
1 paper
NM_003345.5
p.K14E
c.40A>G
1 paper
NM_003345.5
p.E12G
c.35A>G
1 paper
NM_003345.5
p.Q11*
c.31C>T
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