Varaico: Literature-Extracted Genetic Variants

Gene:PAPLN
Variant:p.G741D

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.G741D
c.2222G>A
Surrounding Variants
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.E718G
c.2153A>G
1 paper
NM_173462.4
p.Q681*
c.2041C>T
2 papers
NM_001365906.3
p.G664E
c.1991G>A
3 papers
NM_001365906.3
p.R753W
c.2257C>T
1 paper
NM_001365906.3
p.A764T
c.2290G>A
1 paper
NM_001365906.3
p.Q778*
c.2332C>T
1 paper
NM_001365906.3
p.G786S
c.2356G>A
1 paper
NM_001365906.3
p.N792_N793ins1
c.2376_2377insGGA
1 paper
NM_001365906.3
p.S819F
c.2456C>T
1 paper
NM_001365906.3
p.A846E
c.2537C>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."