Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.P25S

VWDE

133 papers

Pfam Domains

D8C_UMODaa 64–157UCSCUromodulin-like, D8C domain
Ig_VWDEaa 186–290UCSCVWDE-like, immunoglobulin domain
VWDaa 425–582UCSCvon Willebrand factor type D domain
Vwdeaa 796–885UCSCVwde-like domain

Gene Aliases

HGNC Name

von Willebrand factor D and EGF domains

HGNC Alias Symbol

FLJ14712

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001135924.3
p.P25S
c.73C>T
Surrounding Variants
1 paper
NM_001135924.3
p.P34L
c.101C>T
2 papers
NM_001135924.3
p.R39H
c.116G>A
1 paper
NM_001135924.3
p.Q47*
c.139C>T
1 paper
NM_001135924.3
p.I54T
c.161T>C
1 paper
NM_001135924.3
p.Y64H
c.190T>C
1 paper
NM_001135924.3
p.I68F
c.202A>T
1 paper
NM_001135924.3
p.E74K
c.220G>A
1 paper
NM_001135924.3
p.E81K
c.241G>A
1 paper
NM_001135924.3
p.E81_M82Splc
c.243+5G>C
1 paper
NM_001135924.3
p.I91N
c.272T>A
1 paper
NM_001135924.3
p.I91fs
c.271_272fs
1 paper
NM_001135924.3
p.P102L
c.305C>T
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