Varaico: Literature-Extracted Genetic Variants

Gene:URB1
Variant:p.G1809D

URB1

104 papers

Pfam Domains

Npa1aa 78–393UCSCRibosome 60S biogenesis N-terminal
HEAT_URB1aa 632–739UCSCURB1, central HEAT repeat domain
NopRA1aa 1668–1857UCSCNucleolar pre-ribosomal-associated protein 1

Gene Aliases

HGNC Name

URB1 ribosome biogenesis factor

HGNC Previous Symbol

C21orf108

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014825.3
p.G1809D
c.5426G>A
Surrounding Variants
1 paper
NM_014825.3
p.R1808C
c.5422C>T
1 paper
NM_014825.3
p.E1803K
c.5407G>A
2 papers
NM_014825.3
p.C1823F
c.5468G>T
1 paper
NM_014825.3
p.E1825K
c.5473G>A
1 paper
NM_014825.3
p.R1850*
c.5548C>T
1 paper
NM_014825.3
p.P1870L
c.5609C>T
1 paper
NM_014825.3
p.P1870P
c.5610G>A
1 paper
NM_014825.3
p.H1880Y
c.5638C>T
1 paper
NM_014825.3
p.S1904C
c.5711C>G
4 papers
NM_014825.3
p.R1931K
c.5792G>A
1 paper
NM_014825.3
p.S1695L
c.5084C>T
1 paper
NM_014825.3
p.R1683*
c.5047C>T
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