Varaico: Literature-Extracted Genetic Variants

Gene:RPUSD4
Variant:p.A296V

RPUSD4

34 papers

Pfam Domains

PseudoU_synth_2aa 105–277UCSCRNA pseudouridylate synthase

Gene Aliases

HGNC Name

RNA pseudouridine synthase D4

HGNC Alias Symbol

FLJ14494

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032795.3
p.A296V
c.887C>T
Surrounding Variants
1 paper
NM_032795.3
p.P297P
c.891C>T
1 paper
NM_032795.3
p.S276S
c.828T>C
1 paper
NM_032795.3
p.L275F
c.825G>T
1 paper
NM_032795.3
p.L275F
c.825G>C
3 papers
NM_032795.3
p.R272*
c.814C>T
1 paper
NM_032795.3
p.I318T
c.953T>C
1 paper
NM_032795.3
p.I318N
c.953T>A
1 paper
NM_032795.3
p.L320F
c.958C>T
1 paper
NM_032795.3
p.K344_L345insFs
c.1032_1035dup4
1 paper
NM_032795.3
p.H351Y
c.1051C>T
1 paper
NM_032795.3
p.T265I
c.794C>T
1 paper
NM_032795.3
p.V259L
c.775G>T
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