Varaico: Literature-Extracted Genetic Variants

Gene:RPUSD2

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
1–12 of 32 variants
1 paper
NM_152260.3
p.L3R
c.8T>G
1 paper
NM_152260.3
p.G13E
c.38G>A
1 paper
NM_152260.3
p.G30G
c.90C>T
1 paper
NM_152260.3
p.M35I
c.105G>A
1 paper
NM_152260.3
p.M35I
c.105G>C
1 paper
NM_152260.3
p.M35I
c.105G>T
1 paper
NM_152260.3
p.R103L
c.308G>T
1 paper
NM_152260.3
p.V121M
c.361G>A
1 paper
NM_152260.3
p.R143R
c.429G>C
1 paper
NM_152260.3
p.N204S
c.611A>G
1 paper
NM_152260.3
p.R213_E215delFs
c.637_643del7
1 paper
NM_152260.3
p.R213S
c.639G>C
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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."