Varaico: Literature-Extracted Genetic Variants

Gene:PRPF19
Variant:p.R289fs

PRPF19

84 papers

Pfam Domains

U-boxaa 2–57UCSCU-box domain
Prp19aa 67–134UCSCPrp19/Pso4-like
WD40_Prp19aa 216–496UCSCPrp19 WD40 domain

Gene Aliases

HGNC Name

pre-mRNA processing factor 19

HGNC Previous Symbol

PRP19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014502.5
p.R289fs
c.865_866fs
Surrounding Variants
2 papers
NM_014502.5
p.T287P
c.859A>C
1 paper
NM_014502.5
p.D285fs
c.853_854fs
1 paper
NM_014502.5
p.S292L
c.875C>T
1 paper
NM_014502.5
p.V293I
c.877G>A
1 paper
NM_014502.5
p.V293_A304delFs
c.877_910del34
1 paper
NM_014502.5
p.H305Q
c.915T>G
1 paper
NM_014502.5
p.H305Q
c.915T>A
1 paper
NM_014502.5
p.G311G
c.933C>G
1 paper
NM_014502.5
p.G311G
c.933C>A
1 paper
NM_014502.5
p.Y320D
c.958T>G
1 paper
NM_014502.5
p.Y329del1
c.985_987delGTA
1 paper
NM_014502.5
p.S333C
c.998C>G
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