Varaico: Literature-Extracted Genetic Variants

Gene:VWA8
Variant:p.R129W

VWA8

132 papers

Pfam Domains

AAA_5aa 105–261UCSCAAA domain (dynein-related subfamily)
AAA_5aa 442–603UCSCAAA domain (dynein-related subfamily)
AAA_5aa 776–923UCSCAAA domain (dynein-related subfamily)

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 8

HGNC Previous Symbol

KIAA0564

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015058.2
p.R129W
c.385C>T
Surrounding Variants
1 paper
NM_015058.2
p.E132K
c.394G>A
1 paper
NM_015058.2
p.D160H
c.478G>C
1 paper
NM_015058.2
p.R117H
c.350G>A
1 paper
NM_015058.2
p.S82L
c.245C>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."