Varaico: Literature-Extracted Genetic Variants

Gene:PUSL1

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
1–12 of 32 variants
3 papers
NM_153339.3
p.E49K
c.145G>A
2 papers
NM_153339.3
p.R197W
c.589C>T
2 papers
NM_153339.3
p.D262N
c.784G>A
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.G288S
c.862G>A
1 paper
NM_153339.3
p.M1K
c.2T>A
1 paper
NM_153339.3
p.A6V
c.17C>T
1 paper
NM_153339.3
p.V10G
c.29T>G
1 paper
NM_153339.3
p.Y20C
c.59A>G
1 paper
NM_153339.3
p.R36C
c.106C>T
1 paper
NM_153339.3
p.A75_A76delFs
c.224_227del4
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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."