Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.R385*

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
4 papers
NM_001135924.3
p.R385*
c.1153C>T
Surrounding Variants
1 paper
NM_001135924.3
p.R385G
c.1153C>G
1 paper
NM_001135924.3
p.G387E
c.1160G>A
1 paper
NM_001135924.3
p.V394A
c.1181T>C
1 paper
NM_001135924.3
p.V375M
c.1123G>A
1 paper
NM_001135924.3
p.S412delFs
c.1234delT
1 paper
NM_001135924.3
p.C355Y
c.1064G>A
1 paper
NM_001135924.3
p.S353Y
c.1058C>A
1 paper
NM_001135924.3
p.L350S
c.1049T>C
1 paper
NM_001135924.3
p.L346V
c.1036C>G
1 paper
NM_001135924.3
p.G342Splc
c.1025-11T>A
1 paper
NM_001135924.3
p.I434V
c.1300A>G
1 paper
NM_001135924.3
p.R439K
c.1316G>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."