Varaico: Literature-Extracted Genetic Variants

Gene:UBR2
Variant:p.G1206R

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
2 papers
NM_001363705.2
p.G1206R
c.3616G>C
Surrounding Variants
2 papers
NM_001363705.2
p.G1206R
c.3616G>A
1 paper
NM_001363705.2
p.T1199M
c.3596C>T
1 paper
NM_001363705.2
p.T1219A
c.3655A>G
1 paper
NM_001363705.2
p.R1228K
c.3683G>A
1 paper
NM_001363705.2
p.F1143C
c.3428T>G
1 paper
NM_001363705.2
p.N1139K
c.3417C>A
1 paper
NM_001363705.2
p.N1139K
c.3417C>G
4 papers
NM_001363705.2
p.A1095T
c.3283G>A
1 paper
NM_001363705.2
p.A1091T
c.3271G>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
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