Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.E287D

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
1 paper
NM_001135924.3
p.E287D
c.861A>C
Surrounding Variants
1 paper
NM_001135924.3
p.E287D
c.861A>T
1 paper
NM_001135924.3
p.S285G
c.853A>G
1 paper
NM_001135924.3
p.E284K
c.850G>A
3 papers
NM_001135924.3
p.F292I
c.874T>A
1 paper
NM_001135924.3
p.F265L
c.795C>G
1 paper
NM_001135924.3
p.F265L
c.795C>A
1 paper
NM_001135924.3
p.F265L
c.793T>C
1 paper
NM_001135924.3
p.T244I
c.731C>T
1 paper
NM_001135924.3
p.E237*
c.709G>T
1 paper
NM_001135924.3
p.A216T
c.646G>A
1 paper
NM_001135924.3
p.S211C
c.632C>G
1 paper
NM_001135924.3
p.P190L
c.569C>T
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