Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.E840K

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.E840K
c.2518G>A
Surrounding Variants
1 paper
NM_001363705.2
p.P835_K839del0
c.2505_2516del12
1 paper
NM_001363705.2
p.P835_K839del5
c.2503_2516del15
1 paper
NM_001363705.2
p.R850W
c.2548A>T
1 paper
NM_001363705.2
p.E852fs
c.2554_2555fs
1 paper
NM_001363705.2
p.P876S
c.2626C>T
1 paper
NM_001363705.2
p.E804D
c.2412G>C
1 paper
NM_001363705.2
p.E804D
c.2412G>T
1 paper
NM_001363705.2
p.G902A
c.2705G>C
1 paper
NM_001363705.2
p.K779R
c.2336A>G
1 paper
NM_001363705.2
p.G768R
c.2302G>A
1 paper
NM_001363705.2
p.G768R
c.2302G>C
1 paper
NM_001363705.2
p.G762Splc
c.2285-2A>G
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