Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.P116R

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.P116R
c.347C>G
Surrounding Variants
1 paper
NM_003336.4
p.D114V
c.341A>T
1 paper
NM_003336.4
p.P118L
c.353C>T
1 paper
NM_003336.4
p.D114Y
c.340G>T
1 paper
NM_003336.4
p.N119D
c.355A>G
2 papers
NM_003336.4
p.S120T
c.359G>C
1 paper
NM_003336.4
p.Q110_S111Splc
c.331-1G>C
3 papers
NM_003336.4
p.Q110_S111Splc
c.331-2A>G
1 paper
NM_003336.4
p.S111_S120delFs
c.331_359del29
1 paper
NM_003336.4
p.Q125delFs
c.373delC
3 papers
NM_003336.4
p.A126T
c.376G>A
11 papers
NM_003336.4
p.Q128*
c.382C>T
2 papers
NM_003336.4
p.L129insFs
c.387dupG
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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."