Varaico: Literature-Extracted Genetic Variants

Gene:PAPLN
Variant:p.A1114T

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
2 papers
NM_001365906.3
p.A1114T
c.3340G>A
Surrounding Variants
1 paper
NM_001365906.3
p.A1150D
c.3449C>A
1 paper
NM_001365906.3
p.P1083delFs
c.3249delT
1 paper
NM_001365906.3
p.P1083fs
c.3247_3248fs
1 paper
NM_001365906.3
p.M1063I
c.3189G>C
1 paper
NM_001365906.3
p.R1062W
c.3184C>T
1 paper
NM_001365906.3
p.R1044H
c.3131G>A
1 paper
NM_001365906.3
p.D998fs
c.2992_2993fs
1 paper
NM_001365906.3
p.D998delFs
c.2992_2993delGA
1 paper
NM_001365906.3
p.G997A
c.2990G>C
1 paper
NM_001365906.3
p.G997R
c.2989G>C
1 paper
NM_001365906.3
p.G996Splc
c.2987-1G>C
1 paper
NM_001365906.3
p.A1174V
c.3521C>T
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