Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.R137Q

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
Selected Variant
1 paper
NM_001363705.2
p.R137Q
c.410G>A
Surrounding Variants
1 paper
NM_001363705.2
p.E126D
c.378G>C
1 paper
NM_001363705.2
p.E126D
c.378G>T
2 papers
NM_001363705.2
p.E126K
c.376G>A
1 paper
NM_001363705.2
p.C124ins1
c.371_372insACA
1 paper
NM_001363705.2
p.V122L
c.364G>C
1 paper
NM_001363705.2
p.V117I
c.349G>A
1 paper
NM_001363705.2
p.A116_D118del0
c.346_354del9
1 paper
NM_001363705.2
p.C115_A116delFs
c.345_346delTG
1 paper
NM_001363705.2
p.T154I
c.461C>T
1 paper
NM_001363705.2
p.E155A
c.464A>C
1 paper
NM_001363705.2
p.E159_G160insTAA
c.475_479ins9
2 papers
NM_001363705.2
p.P161S
c.481C>T
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