Varaico: Literature-Extracted Genetic Variants

Gene:UBR2

UBR2

105 papers

Pfam Domains

zf-UBRaa 98–166UCSCPutative zinc finger in N-recognin (UBR box)
ClpSaa 222–301UCSCATP-dependent Clp protease adaptor protein ClpS
WHD_UBR1aa 777–875UCSCE3 ubiquitin-protein ligase UBR1-like, winged-helix domain
PRT6_Caa 1308–1730UCSCProteolysis_6 C-terminal

Gene Aliases

HGNC Name

ubiquitin protein ligase E3 component n-recognin 2

HGNC Previous Symbol

C6orf133

Papers
RefSeq ID
Protein change
DNA change
1–12 of 176 variants
4 papers
NM_001363705.2
p.A1095T
c.3283G>A
2 papers
NM_001363705.2
p.K27R
c.80A>G
2 papers
NM_001363705.2
p.E126K
c.376G>A
2 papers
NM_001363705.2
p.P161S
c.481C>T
2 papers
NM_001363705.2
p.H182N
c.544C>A
2 papers
NM_001363705.2
p.I307V
c.919A>G
2 papers
NM_001363705.2
p.R688H
c.2063G>A
2 papers
NM_001363705.2
p.G1206R
c.3616G>A
2 papers
NM_001363705.2
p.G1206R
c.3616G>C
2 papers
NM_001363705.2
p.R1327C
c.3979C>T
2 papers
NM_001363705.2
p.T1462A
c.4384A>G
1 paper
NM_001363705.2
p.M1insFs
c.1_2insA
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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."