Varaico: Literature-Extracted Genetic Variants

Gene:PAPLN
Variant:p.D598N

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.D598N
c.1792G>A
Surrounding Variants
1 paper
NM_001365906.3
p.D594N
c.1780G>A
1 paper
NM_001365906.3
p.Q614L
c.1841A>T
1 paper
NM_001365906.3
p.Q619*
c.1855C>T
1 paper
NM_001365906.3
p.P627R
c.1880C>G
1 paper
NM_001365906.3
p.D640N
c.1918G>A
1 paper
NM_001365906.3
p.G641V
c.1922G>T
2 papers
NM_001365906.3
p.G664E
c.1991G>A
1 paper
NM_173462.4
p.Q681*
c.2041C>T
1 paper
NM_001365906.3
p.E718G
c.2153A>G
2 papers
NM_001365906.3
p.Q723H
c.2169G>C
2 papers
NM_001365906.3
p.Q723H
c.2169G>T
1 paper
NM_001365906.3
p.G741D
c.2222G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."