Varaico: Literature-Extracted Genetic Variants

Gene:PUS7
Variant:p.S100fs

PUS7

66 papers

Pfam Domains

TruDaa 239–642UCSCtRNA pseudouridine synthase D (TruD)

Gene Aliases

HGNC Name

pseudouridine synthase 7

HGNC Alias Symbol

FLJ20485

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019042.5
p.S100fs
c.298_299fs
Surrounding Variants
2 papers
NM_019042.5
p.S100delFs
c.298_299delCT
1 paper
NM_019042.5
p.C93R
c.277T>C
4 papers
NM_019042.5
p.T110fs
c.328_329fs
3 papers
NM_019042.5
p.L89_S90del2
c.265_269del6
3 papers
NM_019042.5
p.T110_E111delFs
c.329_332del4
1 paper
NM_019042.5
p.T117S
c.349A>T
2 papers
NM_019042.5
p.Q77L
c.230A>T
1 paper
NM_019042.5
p.Q124fs
c.370_371fs
4 papers
NM_019042.5
p.G128R
c.382G>C
4 papers
NM_019042.5
p.G128R
c.382G>A
1 paper
NM_019042.5
p.G128G
c.384A>T
3 papers
NM_019042.5
p.R133Splc
c.398+1G>T
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