Varaico: Literature-Extracted Genetic Variants

Gene:PRPF19
Variant:p.Q373*

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.Q373*
c.1117C>T
Surrounding Variants
1 paper
NM_014502.5
p.H359R
c.1076A>G
1 paper
NM_014502.5
p.S349S
c.1047C>T
1 paper
NM_014502.5
p.S349F
c.1046C>T
1 paper
NM_014502.5
p.L341P
c.1022T>C
1 paper
NM_014502.5
p.G393D
c.1178G>A
1 paper
NM_014502.5
p.A399T
c.1195G>A
1 paper
NM_014502.5
p.S333C
c.998C>G
1 paper
NM_014502.5
p.G404R
c.1210G>C
2 papers
NM_014502.5
p.G404S
c.1210G>A
1 paper
NM_014502.5
p.Y329del1
c.985_987delGTA
1 paper
NM_014502.5
p.R422C
c.1264C>T
1 paper
NM_014502.5
p.R422H
c.1265G>A
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