Varaico: Literature-Extracted Genetic Variants

Gene:PUSL1
Variant:p.Y20C

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.Y20C
c.59A>G
Surrounding Variants
1 paper
NM_153339.3
p.V10G
c.29T>G
1 paper
NM_153339.3
p.A6V
c.17C>T
1 paper
NM_153339.3
p.M1K
c.2T>A
1 paper
NM_153339.3
p.R36C
c.106C>T
3 papers
NM_153339.3
p.E49K
c.145G>A
1 paper
NM_153339.3
p.A75_A76delFs
c.224_227del4
1 paper
NM_153339.3
p.L78_D79delFs
c.234_235delGG
1 paper
NM_153339.3
p.P90R
c.269C>G
1 paper
NM_153339.3
p.L134L
c.402G>C
1 paper
NM_153339.3
p.D158Splc
c.473+1G>C
1 paper
NM_153339.3
p.M162V
c.484A>G
1 paper
NM_153339.3
p.S179N
c.536G>A
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