Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.R1327H

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.R1327H
c.3980G>A
Surrounding Variants
2 papers
NM_001363705.2
p.R1327C
c.3979C>T
1 paper
NM_001363705.2
p.V1315M
c.3943G>A
1 paper
NM_001363705.2
p.I1340T
c.4019T>C
1 paper
NM_001363705.2
p.K1352N
c.4056A>C
1 paper
NM_001363705.2
p.K1352N
c.4056A>T
1 paper
NM_001363705.2
p.P1353T
c.4057C>A
1 paper
NM_001363705.2
p.R1367M
c.4100G>T
1 paper
NM_001363705.2
p.A1374T
c.4120G>A
1 paper
NM_001363705.2
p.W1377C
c.4131G>T
1 paper
NM_001363705.2
p.F1393S
c.4178T>C
1 paper
NM_001363705.2
p.S1395L
c.4184C>T
1 paper
NM_001363705.2
p.S1395L
c.4184C>T
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