Varaico: Literature-Extracted Genetic Variants

Gene:PAPLN
Variant:p.G258V

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.G258V
c.773G>T
Surrounding Variants
1 paper
NM_001365906.3
p.Y255F
c.764A>T
1 paper
NM_001365906.3
p.A248V
c.743C>T
1 paper
NM_001365906.3
p.P247_A248insC
c.739_743ins3
1 paper
NM_173462.4
p.A218V
c.653C>T
1 paper
NM_001365906.3
p.E241K
c.721G>A
1 paper
NM_001365906.3
p.R300H
c.899G>A
1 paper
NM_001365906.3
p.R300L
c.899G>T
1 paper
NM_001365906.3
p.A191V
c.572C>T
1 paper
NM_001365906.3
p.T180M
c.539C>T
1 paper
NM_001365906.3
p.R174Q
c.521G>A
1 paper
NM_001365906.3
p.R174W
c.520C>T
1 paper
NM_001365906.3
p.E169K
c.505G>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."