Varaico: Literature-Extracted Genetic Variants

Gene:PRPF40A
Variant:p.E376D

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.E376D
c.1128A>T
Surrounding Variants
1 paper
NM_001365597.4
p.E376D
c.1128A>C
1 paper
NM_001365597.4
p.V368M
c.1102G>A
1 paper
NM_001365597.4
p.A288D
c.863C>A
1 paper
NM_001365597.4
p.E264V
c.791A>T
1 paper
NM_001365597.4
p.K248R
c.743A>G
1 paper
NM_001365597.4
p.G243R
c.727G>C
1 paper
NM_001365597.4
p.W405_N406delins
c.1215_1216delinsTG
1 paper
NM_001365597.4
p.K220E
c.658A>G
1 paper
NM_001365597.4
p.R442Q
c.1325G>A
4 papers
NM_001365597.4
p.E184Q
c.550G>C
1 paper
NM_001365597.4
p.N175D
c.523A>G
1 paper
NM_001365597.4
p.K533*
c.1597A>T
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