Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.S1009R

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.S1009R
c.3025A>C
Surrounding Variants
1 paper
NM_001363705.2
p.K1001N
c.3003G>C
1 paper
NM_001363705.2
p.K1001N
c.3003G>T
1 paper
NM_001363705.2
p.H985N
c.2953C>A
1 paper
NM_001363705.2
p.E974*
c.2920G>T
1 paper
NM_001363705.2
p.E961delFs
c.2881delG
1 paper
NM_001363705.2
p.K958Splc
c.2873-5C>T
1 paper
NM_001363705.2
p.R1041H
c.3122G>A
1 paper
NM_001363705.2
p.M1049I
c.3147G>A
1 paper
NM_001363705.2
p.M1049I
c.3147G>C
1 paper
NM_001363705.2
p.M1049I
c.3147G>T
1 paper
NM_001363705.2
p.A1091T
c.3271G>A
4 papers
NM_001363705.2
p.A1095T
c.3283G>A
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