Varaico: Literature-Extracted Genetic Variants

Gene:PUSL1
Variant:p.G288S

PUSL1

30 papers

Pfam Domains

PseudoU_synth_1aa 16–123UCSCtRNA pseudouridine synthase
PseudoU_synth_1aa 168–285UCSCtRNA pseudouridine synthase

Gene Aliases

HGNC Name

pseudouridine synthase like 1

HGNC Alias Symbol

FLJ90811

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_153339.3
p.G288S
c.862G>A
Surrounding Variants
1 paper
NM_153339.3
p.A272V
c.815C>T
2 papers
NM_153339.3
p.H267Q
c.801C>A
2 papers
NM_153339.3
p.H267Q
c.801C>G
2 papers
NM_153339.3
p.D262N
c.784G>A
1 paper
NM_153339.3
p.V254V
c.762G>A
1 paper
NM_153339.3
p.L246_P251delFs
c.737_753del17
1 paper
NM_153339.3
p.G245E
c.734G>A
1 paper
NM_153339.3
p.V234_R235del1
c.702_704delACG
1 paper
NM_153339.3
p.V234fs
c.700_701fs
1 paper
NM_153339.3
p.V234_R235del2
c.700_704del6
1 paper
NM_153339.3
p.H302L
c.905A>T
1 paper
NM_153339.3
p.G303*
c.907G>T
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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."