Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.A92P

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.A92P
c.274G>C
Surrounding Variants
1 paper
NM_001363705.2
p.K94R
c.281A>G
1 paper
NM_001363705.2
p.K94I
c.281A>T
1 paper
NM_001363705.2
p.K88R
c.263A>G
1 paper
NM_001363705.2
p.P87S
c.259C>T
1 paper
NM_001363705.2
p.P108S
c.322C>T
1 paper
NM_001363705.2
p.T109A
c.325A>G
1 paper
NM_001363705.2
p.W75_E80insFs
c.224_240dup17
1 paper
NM_001363705.2
p.M73V
c.217A>G
1 paper
NM_001363705.2
p.V68I
c.202G>A
1 paper
NM_001363705.2
p.H67D
c.199C>G
1 paper
NM_001363705.2
p.A65T
c.193G>A
1 paper
NM_001363705.2
p.G53_P54ins1
c.159_160insTAA
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