Varaico: Literature-Extracted Genetic Variants

Gene:PRPF40A
Variant:p.P18A

PRPF40A

93 papers

Pfam Domains

WWaa 116–144UCSCWW domain
WWaa 156–185UCSCWW domain
FFaa 368–417UCSCFF domain
FFaa 435–484UCSCFF domain
FFaa 582–641UCSCFF domain
FF_PRPF40Aaa 648–707UCSCPRPF40A-like, FF domain

Gene Aliases

HGNC Name

pre-mRNA processing factor 40A

HGNC Previous Symbol

FNBP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001365597.4
p.P18A
c.52C>G
Surrounding Variants
1 paper
NM_001365597.4
p.P18P
c.54G>A
1 paper
NM_001365597.4
p.M16I
c.48G>T
1 paper
NM_001365597.4
p.M16I
c.48G>C
1 paper
NM_001365597.4
p.M16I
c.48G>A
1 paper
NM_001365597.4
p.A22V
c.65C>T
1 paper
NM_001365597.4
p.G25R
c.73G>C
1 paper
NM_001365597.4
p.G26G
c.78C>T
1 paper
NM_001365597.4
p.R7L
c.20G>T
1 paper
NM_001365597.4
p.G4D
c.11G>A
1 paper
NM_001365597.4
p.C2R
c.4T>C
1 paper
NM_001365597.4
p.R46P
c.137G>C
1 paper
NM_001365597.4
p.S57F
c.170C>T
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