Varaico: Literature-Extracted Genetic Variants

Gene:PAPLN
Variant:p.R72H

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.R72H
c.215G>A
Surrounding Variants
1 paper
NM_001365906.3
p.V65M
c.193G>A
1 paper
NM_001365906.3
p.S62C
c.185C>G
1 paper
NM_001365906.3
p.G61delFs
c.181delG
1 paper
NM_001365906.3
p.R58G
c.172A>G
1 paper
NM_001365906.3
p.P80fs
c.238_239fs
1 paper
NM_001365906.3
p.G82R
c.244G>C
1 paper
NM_001365906.3
p.A83insFs
c.247_248insC
1 paper
NM_001365906.3
p.A83fs
c.247_248fs
1 paper
NM_001365906.3
p.E98D
c.294G>C
1 paper
NM_001365906.3
p.E98D
c.294G>T
1 paper
NM_001365906.3
p.R102W
c.304C>T
1 paper
NM_001365906.3
p.Y104H
c.310T>C
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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."