Varaico: Literature-Extracted Genetic Variants

Gene:VWA8
Variant:p.R1520*

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
5 papers
NM_015058.2
p.R1520*
c.4558C>T
Surrounding Variants
1 paper
NM_015058.2
p.G1498S
c.4492G>A
1 paper
NM_015058.2
p.Q1537_I1538Splc
c.4611+17C>T
1 paper
NM_015058.2
p.A1492V
c.4475C>T
1 paper
NM_015058.2
p.R1470*
c.4408A>T
1 paper
NM_015058.2
p.S1450C
c.4349C>G
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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."