Varaico: Literature-Extracted Genetic Variants

Gene:UBE2D2
Variant:p.K128E

UBE2D2

118 papers

RefSeq Summary

Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of tar...

Pfam Domains

UQ_conaa 5–142UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 D2

HGNC Alias Symbols

UbcH5B; UBC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003339.3
p.K128E
c.382A>G
Surrounding Variants
1 paper
NM_003339.3
p.K128R
c.383A>G
1 paper
NM_003339.3
p.Y127*
c.381C>A
1 paper
NM_003339.3
p.K133M
c.398A>T
1 paper
NM_003339.3
p.E122K
c.364G>A
3 papers
NM_003339.3
p.D117A
c.350A>C
1 paper
NM_003339.3
p.D117H
c.349G>C
1 paper
NM_003339.3
p.D112A
c.335A>C
2 papers
NM_003339.3
p.C111S
c.332G>C
2 papers
NM_003339.3
p.C111S
c.331T>A
1 paper
NM_003339.3
p.C107S
c.320G>C
1 paper
NM_003339.3
p.C107S
c.319T>A
1 paper
NM_003339.3
p.W141R
c.421T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."