Varaico: Literature-Extracted Genetic Variants

Gene:RPUSD2
Variant:p.R213S

RPUSD2

26 papers

Pfam Domains

PseudoU_synth_2aa 231–378UCSCRNA pseudouridylate synthase

Gene Aliases

HGNC Name

RNA pseudouridine synthase domain containing 2

HGNC Previous Symbol

C15orf19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152260.3
p.R213S
c.639G>C
Surrounding Variants
1 paper
NM_152260.3
p.R213S
c.639G>T
1 paper
NM_152260.3
p.H214R
c.641A>G
1 paper
NM_152260.3
p.R213_E215delFs
c.637_643del7
1 paper
NM_152260.3
p.A220E
c.659C>A
1 paper
NM_152260.3
p.N204S
c.611A>G
1 paper
NM_152260.3
p.V234G
c.701T>G
1 paper
NM_152260.3
p.R248C
c.742C>T
1 paper
NM_152260.3
p.R250*
c.748C>T
1 paper
NM_152260.3
p.K265Q
c.793A>C
1 paper
NM_152260.3
p.D274_L276delFs
c.820_826del7
1 paper
NM_152260.3
p.D274H
c.820G>C
1 paper
NM_152260.3
p.D274fs
c.820_821fs
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