Varaico: Literature-Extracted Genetic Variants

Gene:VWA5A
Variant:p.R636H

VWA5A

54 papers

Pfam Domains

VITaa 17–129UCSCVault protein inter-alpha-trypsin domain
VWA_3aa 280–443UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 5A

HGNC Previous Symbol

LOH11CR2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130142.2
p.R636H
c.1907G>A
Surrounding Variants
1 paper
NM_001130142.2
p.L632fs
c.1894_1895fs
1 paper
NM_001130142.2
p.R629*
c.1885C>T
1 paper
NM_001130142.2
p.A701V
c.2102C>T
1 paper
NM_001130142.2
p.M706I
c.2118G>A
1 paper
NM_001130142.2
p.M706I
c.2118G>C
1 paper
NM_001130142.2
p.M706I
c.2118G>T
1 paper
NM_001130142.2
p.S722P
c.2164T>C
1 paper
NM_001130142.2
p.K751N
c.2253G>C
1 paper
NM_001130142.2
p.K751N
c.2253G>T
1 paper
NM_001130142.2
p.R757H
c.2270G>A
1 paper
NM_001130142.2
p.A758A
c.2274C>T
1 paper
NM_001130142.2
p.H759Y
c.2275C>T
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."