Varaico: Literature-Extracted Genetic Variants

Gene:PRPF19

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
1–12 of 101 variants
4 papers
NM_014502.5
p.K265R
c.794A>G
2 papers
NM_014502.5
p.S149A
c.445T>G
2 papers
NM_014502.5
p.E186K
c.556G>A
2 papers
NM_014502.5
p.H273fs
c.817_818fs
2 papers
NM_014502.5
p.T287P
c.859A>C
2 papers
NM_014502.5
p.G404S
c.1210G>A
2 papers
NM_014502.5
p.G476S
c.1426G>A
1 paper
NM_014502.5
p.S2Y
c.5C>A
1 paper
NM_014502.5
p.L3insFs
c.7dupC
1 paper
NM_014502.5
p.C5S
c.14G>C
1 paper
NM_014502.5
p.E10K
c.28G>A
1 paper
NM_014502.5
p.P15A
c.43C>G
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