Varaico: Literature-Extracted Genetic Variants

Gene:RPUSD1
Variant:p.R120K

RPUSD1

22 papers

Pfam Domains

PseudoU_synth_2aa 17–124UCSCRNA pseudouridylate synthase

Gene Aliases

HGNC Name

RNA pseudouridine synthase domain containing 1

HGNC Previous Symbol

C16orf40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_058192.3
p.R120K
c.359G>A
Surrounding Variants
1 paper
NM_058192.3
p.I118T
c.353T>C
1 paper
NM_058192.3
p.E124Q
c.370G>C
1 paper
NM_058192.3
p.E133K
c.397G>A
1 paper
NM_058192.3
p.G134S
c.400G>A
1 paper
NM_058192.3
p.S135L
c.404C>T
1 paper
NM_058192.3
p.R104Q
c.311G>A
1 paper
NM_058192.3
p.C138G
c.412T>G
1 paper
NM_058192.3
p.E139K
c.415G>A
1 paper
NM_058192.3
p.K91N
c.273G>C
1 paper
NM_058192.3
p.D159N
c.475G>A
1 paper
NM_058192.3
p.P160T
c.478C>A
1 paper
NM_058192.3
p.Y87N
c.259T>A
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