Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.Q110L

UBE2A

105 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 8–145UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 A

HGNC Alias Symbols

UBC2; HHR6A; RAD6A; HR6A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003336.4
p.Q110L
c.329A>T
Surrounding Variants
3 papers
NM_003336.4
p.Q110E
c.328C>G
4 papers
NM_003336.4
p.Q110Q
c.330G>A
1 paper
NM_003336.4
p.Q110_S111Splc
c.330+1G>A
1 paper
NM_003336.4
p.L106I
c.316C>A
1 paper
NM_003336.4
p.V102E
c.305T>A
2 papers
NM_003336.4
p.D101del1
c.301_302delGAT
1 paper
NM_003336.4
p.T99A
c.295A>G
1 paper
NM_003336.4
p.W96*
c.288G>A
2 papers
NM_003336.4
p.W96*
c.287G>A
4 papers
NM_003336.4
p.R95C
c.283C>T
1 paper
NM_003336.4
p.Q93R
c.278A>G
3 papers
NM_003336.4
p.Q93E
c.277C>G
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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."