Varaico: Literature-Extracted Genetic Variants

Gene:PUS10
Variant:p.V275fs

PUS10

41 papers

RefSeq Summary

Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosom...

Pfam Domains

Pus10_N_eukaa 109–283UCSCEukaryotic Pus10, N-terminal
Pus10_Caa 289–520UCSCPus10, C-terminal

Gene Aliases

HGNC Name

pseudouridine synthase 10

HGNC Previous Symbol

CCDC139

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144709.4
p.V275fs
c.823_824fs
Surrounding Variants
1 paper
NM_144709.4
p.A277T
c.829G>A
1 paper
NM_144709.4
p.Q264K
c.790C>A
1 paper
NM_144709.4
p.R246K
c.737G>A
1 paper
NM_144709.4
p.S242Y
c.725C>A
1 paper
NM_144709.4
p.K235Q
c.703A>C
1 paper
NM_144709.4
p.F214L
c.642T>G
1 paper
NM_144709.4
p.F214L
c.642T>A
1 paper
NM_144709.4
p.F214L
c.640T>C
1 paper
NM_144709.4
p.S211C
c.631A>T
1 paper
NM_144709.4
p.G199D
c.596G>A
1 paper
NM_144709.4
p.D178G
c.533A>G
1 paper
NM_144709.4
p.R176K
c.527G>A
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