Varaico: Literature-Extracted Genetic Variants

Gene:URB1
Variant:p.Q1305*

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.Q1305*
c.3913C>T
Surrounding Variants
1 paper
NM_014825.3
p.R1334Q
c.4001G>A
2 papers
NM_014825.3
p.V1360M
c.4078G>A
1 paper
NM_014825.3
p.L1415F
c.4245A>T
1 paper
NM_014825.3
p.L1415F
c.4245A>C
1 paper
NM_014825.3
p.V1290Splc
c.3868+1G>A
1 paper
NM_014825.3
p.V1274M
c.3820G>A
2 papers
NM_014825.3
p.D1267N
c.3799G>A
1 paper
NM_014825.3
p.D1264H
c.3790G>C
1 paper
NM_014825.3
p.L1238L
c.3714C>T
2 papers
NM_014825.3
p.R1226H
c.3677G>A
1 paper
NM_014825.3
p.L1219V
c.3655C>G
1 paper
NM_014825.3
p.V1214V
c.3642C>T
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