Varaico: Literature-Extracted Genetic Variants

Gene:PUSL1
Variant:p.S179N

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
1 paper
NM_153339.3
p.S179N
c.536G>A
Surrounding Variants
1 paper
NM_153339.3
p.M162V
c.484A>G
2 papers
NM_153339.3
p.R197W
c.589C>T
1 paper
NM_153339.3
p.D158Splc
c.473+1G>C
1 paper
NM_153339.3
p.L134L
c.402G>C
1 paper
NM_153339.3
p.P90R
c.269C>G
1 paper
NM_153339.3
p.L78_D79delFs
c.234_235delGG
1 paper
NM_153339.3
p.A75_A76delFs
c.224_227del4
3 papers
NM_153339.3
p.E49K
c.145G>A
1 paper
NM_153339.3
p.R36C
c.106C>T
1 paper
NM_153339.3
p.L217insFs
c.650dupT
1 paper
NM_153339.3
p.R218Q
c.653G>A
1 paper
NM_153339.3
p.F224_Q227del4
c.670_680del12
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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."