Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.D329N

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.D329N
c.985G>A
Surrounding Variants
1 paper
NM_001363705.2
p.H310Q
c.930T>A
1 paper
NM_001363705.2
p.H310Q
c.930T>G
2 papers
NM_001363705.2
p.I307V
c.919A>G
1 paper
NM_001363705.2
p.V300F
c.898G>T
1 paper
NM_001363705.2
p.P297Q
c.890C>A
1 paper
NM_001363705.2
p.S292G
c.874A>G
1 paper
NM_001363705.2
p.R289fs
c.865_866fs
1 paper
NM_001363705.2
p.R332C
c.994C>T
1 paper
NM_001363705.2
p.I334T
c.1001T>C
1 paper
NM_001363705.2
p.D345_G346del2
c.1033_1037del6
1 paper
NM_001363705.2
p.G346_R354del9
c.1036_1061del27
1 paper
NM_001363705.2
p.D359N
c.1075G>A
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