Varaico: Literature-Extracted Genetic Variants

Gene:PRPF19
Variant:p.S503G

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.S503G
c.1507A>G
Surrounding Variants
1 paper
NM_014502.5
p.L499P
c.1496T>C
1 paper
NM_014502.5
p.L499F
c.1495C>T
1 paper
NM_014502.5
p.M495T
c.1484T>C
1 paper
NM_014502.5
p.S492L
c.1475C>T
1 paper
NM_014502.5
p.A491T
c.1471G>A
1 paper
NM_014502.5
p.I490N
c.1469T>A
1 paper
NM_014502.5
p.A487T
c.1459G>A
2 papers
NM_014502.5
p.G476S
c.1426G>A
1 paper
NM_014502.5
p.D456Y
c.1366G>T
1 paper
NM_014502.5
p.T455K
c.1364C>A
1 paper
NM_014502.5
p.G453A
c.1358G>C
1 paper
NM_014502.5
p.Y449D
c.1345T>G
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