Varaico: Literature-Extracted Genetic Variants

Gene:VWA8

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
1–12 of 153 variants
5 papers
NM_015058.2
p.R1520*
c.4558C>T
4 papers
NM_015058.2
p.R668Q
c.2003G>A
3 papers
NM_015058.2
p.R129W
c.385C>T
3 papers
NM_015058.2
p.D316G
c.947A>G
3 papers
NM_015058.2
p.G1024R
c.3070G>C
3 papers
NM_015058.2
p.G1024R
c.3070G>A
3 papers
NM_015058.2
p.V1564M
c.4690G>A
2 papers
NM_015058.2
p.T57I
c.170C>T
2 papers
NM_015058.2
p.R165H
c.494G>A
2 papers
NM_015058.2
p.R204C
c.610C>T
2 papers
NM_015058.2
p.P256insFs
c.767dupC
2 papers
NM_015058.2
p.M330V
c.988A>G
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