Varaico: Literature-Extracted Genetic Variants

Gene:PAPLN

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
1–12 of 104 variants
3 papers
NM_001365906.3
p.R753W
c.2257C>T
3 papers
NM_001365906.3
p.A869T
c.2605G>A
3 papers
NM_001365906.3
p.T1201M
c.3602C>T
2 papers
NM_001365906.3
p.S33G
c.97A>G
2 papers
NM_001365906.3
p.T363S
c.1087A>T
2 papers
NM_001365906.3
p.R365Splc
c.1094+1G>A
2 papers
NM_001365906.3
p.G664E
c.1991G>A
2 papers
NM_001365906.3
p.Q723H
c.2169G>C
2 papers
NM_001365906.3
p.Q723H
c.2169G>T
2 papers
NM_001365906.3
p.K850M
c.2549A>T
2 papers
NM_001365906.3
p.R928G
c.2782C>G
2 papers
NM_001365906.3
p.A1114T
c.3340G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."