Varaico: Literature-Extracted Genetic Variants

Gene:PRPF19
Variant:p.S205C

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.S205C
c.613A>T
Surrounding Variants
1 paper
NM_014502.5
p.R208W
c.622C>T
1 paper
NM_014502.5
p.V194M
c.580G>A
1 paper
NM_014502.5
p.K192K
c.576G>A
1 paper
NM_014502.5
p.K192R
c.575A>G
1 paper
NM_014502.5
p.K189_R190Splc
c.567+49C>T
1 paper
NM_014502.5
p.R187C
c.559C>T
2 papers
NM_014502.5
p.E186K
c.556G>A
1 paper
NM_014502.5
p.D178N
c.532G>A
1 paper
NM_014502.5
p.L227R
c.680T>G
1 paper
NM_014502.5
p.T234N
c.701C>A
1 paper
NM_014502.5
p.S253F
c.758C>T
1 paper
NM_014502.5
p.L257insFs
c.769_770insA
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