Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.Q1430H

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.Q1430H
c.4290G>C
Surrounding Variants
1 paper
NM_001363705.2
p.Q1430H
c.4290G>T
1 paper
NM_001363705.2
p.Q1428H
c.4284G>C
1 paper
NM_001363705.2
p.Q1428H
c.4284G>T
1 paper
NM_001363705.2
p.G1440R
c.4318G>A
1 paper
NM_001363705.2
p.G1440R
c.4318G>C
1 paper
NM_001363705.2
p.L1458V
c.4372C>G
2 papers
NM_001363705.2
p.T1462A
c.4384A>G
1 paper
NM_001363705.2
p.E1464Q
c.4390G>C
1 paper
NM_001363705.2
p.M1467L
c.4399A>C
1 paper
NM_001363705.2
p.M1467L
c.4399A>T
1 paper
NM_001363705.2
p.S1395L
c.4184C>T
1 paper
NM_001363705.2
p.S1395L
c.4184C>T
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