Varaico: Literature-Extracted Genetic Variants

Gene:PRPF40A
Variant:p.Q861R

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.Q861R
c.2582A>G
Surrounding Variants
1 paper
NM_001365597.4
p.K827N
c.2481G>T
1 paper
NM_001365597.4
p.K827N
c.2481G>C
1 paper
NM_001365597.4
p.K914R
c.2741A>G
1 paper
NM_001365597.4
p.S763A
c.2287T>G
1 paper
NM_001365597.4
p.A743G
c.2228C>G
1 paper
NM_001365597.4
p.V705I
c.2113G>A
1 paper
NM_001365597.4
p.D696A
c.2087A>C
1 paper
NM_001365597.4
p.H688H
c.2064T>C
1 paper
NM_001365597.4
p.L673L
c.2019T>C
1 paper
NM_001365597.4
p.G666G
c.1998T>C
1 paper
NM_001365597.4
p.F661Y
c.1982T>A
1 paper
NM_001365597.4
p.L642V
c.1924C>G
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