Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.R1576C

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.R1576C
c.4726C>T
Surrounding Variants
1 paper
NM_001363705.2
p.R1576fs
c.4726_4727fs
1 paper
NM_001363705.2
p.K1599R
c.4796A>G
1 paper
NM_001363705.2
p.S1615T
c.4843T>A
1 paper
NM_001363705.2
p.S1618L
c.4853C>T
1 paper
NM_001363705.2
p.N1568Y
c.4702A>T
1 paper
NM_001363705.2
p.E1565*
c.4693G>T
1 paper
NM_001363705.2
p.P1533insFs
c.4599dupC
1 paper
NM_001363705.2
p.G1501S
c.4501G>A
1 paper
NM_001363705.2
p.T1631A
c.4891A>G
1 paper
NM_001363705.2
p.A1658T
c.4972G>A
1 paper
NM_001363705.2
p.L1674P
c.5021T>C
1 paper
NM_001363705.2
p.M1467L
c.4399A>C
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