Varaico: Literature-Extracted Genetic Variants

Gene:PAPLN
Variant:p.G380_S382del3

PAPLN

76 papers

Pfam Domains

TSP_1aa 30–79UCSCThrombospondin type 1 domain
ADAMTS_CR_3aa 82–182UCSCADAMTS cysteine-rich domain
ADAMTS_spacer1aa 184–298UCSCADAM-TS Spacer 1
TSP1_ADAMTSaa 308–360UCSCThrombospondin type 1 domain
TSP1_ADAMTSaa 308–360UCSCThrombospondin type 1 domain
TSP1_ADAMTSaa 366–424UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

papilin, proteoglycan like sulfated glycoprotein

HGNC Alias Symbol

MGC50452

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001365906.3
p.G380_S382del3
c.1138_1145del9
Surrounding Variants
1 paper
NM_001365906.3
p.P413T
c.1237C>A
1 paper
NM_001365906.3
p.P414H
c.1241C>A
1 paper
NM_001365906.3
p.A461T
c.1381G>A
1 paper
NM_001365906.3
p.W493R
c.1477T>A
2 papers
NM_001365906.3
p.R365Splc
c.1094+1G>A
2 papers
NM_001365906.3
p.T363S
c.1087A>T
1 paper
NM_001365906.3
p.L357P
c.1070T>C
2 papers
NM_173462.4
p.N329H
c.985A>C
NM_001365906.3
p.N356H
c.1066A>C
1 paper
NM_001365906.3
p.R353C
c.1057C>T
1 paper
NM_001365906.3
p.Q346_S354del9
c.1036_1061del27
1 paper
NM_001365906.3
p.R507Q
c.1520G>A
1 paper
NM_001365906.3
p.R300H
c.899G>A
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