Varaico: Literature-Extracted Genetic Variants

Gene:UBE2D1
Variant:p.S91A

UBE2D1

149 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 1–104UCSCUbiquitin-conjugating enzyme
UQ_conaa 5–142UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 D1

HGNC Alias Symbols

UbcH5A; UBCH5; UBC4/5; E2(17)KB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003338.5
p.S91A
c.271T>G
Surrounding Variants
2 papers
NM_003338.5
p.Q92R
c.275A>G
1 paper
NM_003338.5
p.P95A
c.283C>G
2 papers
NM_003338.5
p.P95L
c.284C>T
1 paper
NM_003338.5
p.A96S
c.286G>T
1 paper
NM_003338.5
p.A96D
c.287C>A
4 papers
NM_003338.5
p.C85S
c.254G>C
4 papers
NM_003338.5
p.C85S
c.253T>A
1 paper
NM_003338.5
p.S83N
c.248G>A
1 paper
NM_003338.5
p.P76L
c.227C>T
1 paper
NM_003338.5
p.P76T
c.226C>A
1 paper
NM_003338.5
p.P76S
c.226C>T
1 paper
NM_003338.5
p.I67I
c.201T>A
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