Varaico: Literature-Extracted Genetic Variants

Gene:URB1
Variant:p.P598L

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
1 paper
NM_014825.3
p.P598L
c.1793C>T
Surrounding Variants
1 paper
NM_014825.3
p.V573V
c.1719C>A
1 paper
NM_014825.3
p.I562V
c.1684A>G
1 paper
NM_014825.3
p.L554F
c.1662G>T
1 paper
NM_014825.3
p.L554F
c.1662G>C
1 paper
NM_014825.3
p.D547N
c.1639G>A
1 paper
NM_014825.3
p.D547N
c.1639G>A
1 paper
NM_014825.3
p.E522E
c.1566G>A
1 paper
NM_014825.3
p.G632R
c.1894G>C
1 paper
NM_014825.3
p.G632R
c.1894G>A
1 paper
NM_014825.3
p.K654M
c.1961A>T
1 paper
NM_014825.3
p.K503_I504Splc
c.1509+3A>C
1 paper
NM_014825.3
p.F493I
c.1477T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."