Varaico: Literature-Extracted Genetic Variants

Gene:URB1
Variant:p.D63E

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.D63E
c.189T>G
Surrounding Variants
2 papers
NM_014825.3
p.D63E
c.189T>A
1 paper
NM_014825.3
p.P60L
c.179C>T
1 paper
NM_014825.3
p.G48G
c.144C>G
1 paper
NM_014825.3
p.G48fs
c.142_143fs
1 paper
NM_014825.3
p.L84L
c.252C>T
1 paper
NM_014825.3
p.L85delFs
c.253delG
2 papers
NM_014825.3
p.R90*
c.268C>T
1 paper
NM_014825.3
p.F102L
c.306C>G
1 paper
NM_014825.3
p.I105T
c.314T>C
1 paper
NM_014825.3
p.D112A
c.335A>C
1 paper
NM_014825.3
p.P162P
c.486G>A
1 paper
NM_014825.3
p.V168L
c.502G>C
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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."