Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.E434K

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.E434K
c.1300G>A
Surrounding Variants
1 paper
NM_001363705.2
p.I432S
c.1295T>G
1 paper
NM_001363705.2
p.R452G
c.1354C>G
1 paper
NM_001363705.2
p.D453G
c.1358A>G
1 paper
NM_001363705.2
p.R462*
c.1384C>T
1 paper
NM_001363705.2
p.Q475*
c.1423C>T
1 paper
NM_001363705.2
p.L496L
c.1486C>T
1 paper
NM_001363705.2
p.M514I
c.1542G>A
1 paper
NM_001363705.2
p.M514I
c.1542G>C
1 paper
NM_001363705.2
p.M514I
c.1542G>T
1 paper
NM_001363705.2
p.E529D
c.1587A>C
1 paper
NM_001363705.2
p.E529D
c.1587A>T
1 paper
NM_001363705.2
p.Q541Q
c.1623A>G
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