Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.Q699P

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.Q699P
c.2096A>C
Surrounding Variants
1 paper
NM_001363705.2
p.V696L
c.2086G>C
1 paper
NM_001363705.2
p.V696L
c.2086G>T
1 paper
NM_001363705.2
p.V695insFs
c.2083dupG
1 paper
NM_001363705.2
p.R688R
c.2064T>G
2 papers
NM_001363705.2
p.R688H
c.2063G>A
1 paper
NM_001363705.2
p.Q677*
c.2029C>T
1 paper
NM_001363705.2
p.T700A
c.2098A>G
1 paper
NM_001363705.2
p.G762Splc
c.2285-2A>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.K779R
c.2336A>G
1 paper
NM_001363705.2
p.G620Splc
c.1858+6G>C
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